{ "url": "https://dantelabs.com/nl/genes/hba2", "gene": { "slug": "hba2", "symbol": "HBA2", "name": "hemoglobin subunit alpha 2", "hgnc": "HGNC:4824", "summary": null, "location": "16p13.3", "locusType": "gene with protein product", "aliases": [ "HBA-T2" ], "previousSymbols": [], "ensemblId": "ENSG00000188536", "entrezId": 3040, "omim": [ "141850" ], "uniprot": [ "P69905" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 172876, "end": 173710, "strand": "+", "ensemblTranscript": "ENST00000251595.11", "refseqTranscript": "NM_000517.6", "ensemblProtein": "ENSP00000251595.6", "refseqProtein": "NP_000508.1", "exons": [ { "start": 172876, "end": 173007 }, { "start": 173125, "end": 173329 }, { "start": 173472, "end": 173710 } ], "cds": { "start": 172913, "end": 173600 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 222846, "end": 223709, "strand": "+" }, "neighbourhood": { "release": "116", "start": 1, "end": 673292, "genes": [ { "symbol": "POLR3K", "ensemblId": "ENSG00000161980", "biotype": "protein_coding", "start": 44356, "end": 53663, "strand": "-", "slug": "polr3k" }, { "symbol": "SNRNP25", "ensemblId": "ENSG00000161981", "biotype": "protein_coding", "start": 53817, "end": 60009, "strand": "+", "slug": "snrnp25" }, { "symbol": "RHBDF1", "ensemblId": "ENSG00000007384", "biotype": "protein_coding", "start": 58058, "end": 78176, "strand": "-", "slug": "rhbdf1" }, { "symbol": "MPG", "ensemblId": "ENSG00000103152", "biotype": "protein_coding", "start": 77007, "end": 136889, "strand": "+", "slug": "mpg" }, { "symbol": "NPRL3", "ensemblId": "ENSG00000103148", "biotype": "protein_coding", "start": 79387, "end": 138720, "strand": "-", "slug": "nprl3" }, { "symbol": "HBZ", "ensemblId": "ENSG00000130656", "biotype": "protein_coding", "start": 142728, "end": 154503, "strand": "+", "slug": "hbz" }, { "symbol": "HBM", "ensemblId": "ENSG00000206177", "biotype": "protein_coding", "start": 153892, "end": 166770, "strand": "+", "slug": "hbm" }, { "symbol": "HBA1", "ensemblId": "ENSG00000206172", "biotype": "protein_coding", "start": 176660, "end": 177527, "strand": "+", "slug": "hba1" }, { "symbol": "HBQ1", "ensemblId": "ENSG00000086506", "biotype": "protein_coding", "start": 180437, "end": 181181, "strand": "+", "slug": "hbq1" }, { "symbol": "LUC7L", "ensemblId": "ENSG00000007392", "biotype": "protein_coding", "start": 188943, "end": 229485, "strand": "-", "slug": "luc7l" }, { "symbol": "FAM234A", "ensemblId": "ENSG00000167930", "biotype": "protein_coding", "start": 234521, "end": 272183, "strand": "+", "slug": "fam234a" }, { "symbol": "RGS11", "ensemblId": "ENSG00000076344", "biotype": "protein_coding", "start": 268301, "end": 275980, "strand": "-", "slug": "rgs11" }, { "symbol": "ARHGDIG", "ensemblId": "ENSG00000242173", "biotype": "protein_coding", "start": 280386, "end": 283010, "strand": "+", "slug": "arhgdig" }, { "symbol": "PDIA2", "ensemblId": "ENSG00000185615", "biotype": "protein_coding", "start": 283152, "end": 287215, "strand": "+", "slug": "pdia2" }, { "symbol": "AXIN1", "ensemblId": "ENSG00000103126", "biotype": "protein_coding", "start": 287440, "end": 352734, "strand": "-", "slug": "axin1" }, { "symbol": "MRPL28", "ensemblId": "ENSG00000086504", "biotype": "protein_coding", "start": 365449, "end": 371289, "strand": "-", "slug": "mrpl28" }, { "symbol": "PGAP6", "ensemblId": "ENSG00000129925", "biotype": "protein_coding", "start": 370779, "end": 387113, "strand": "-", "slug": "pgap6" }, { "symbol": "NME4", "ensemblId": "ENSG00000103202", "biotype": "protein_coding", "start": 396725, "end": 410367, "strand": "+", "slug": "nme4" }, { "symbol": "DECR2", "ensemblId": "ENSG00000242612", "biotype": "protein_coding", "start": 401834, "end": 412492, "strand": "+", "slug": "decr2" }, { "symbol": "RAB11FIP3", "ensemblId": "ENSG00000090565", "biotype": "protein_coding", "start": 425593, "end": 523012, "strand": "+", "slug": "rab11fip3" }, { "symbol": "CAPN15", "ensemblId": "ENSG00000103326", "biotype": "protein_coding", "start": 527698, "end": 554636, "strand": "+", "slug": "capn15" }, { "symbol": "PRR35", "ensemblId": "ENSG00000161992", "biotype": "protein_coding", "start": 559688, "end": 565532, "strand": "+", "slug": "prr35" }, { "symbol": "PIGQ", "ensemblId": "ENSG00000007541", "biotype": "protein_coding", "start": 566995, "end": 584121, "strand": "+", "slug": "pigq" }, { "symbol": "NHLRC4", "ensemblId": "ENSG00000257108", "biotype": "protein_coding", "start": 567000, "end": 569495, "strand": "+", "slug": "nhlrc4" }, { "symbol": "RAB40C", "ensemblId": "ENSG00000197562", "biotype": "protein_coding", "start": 589007, "end": 629348, "strand": "+", "slug": "rab40c" }, { "symbol": "WFIKKN1", "ensemblId": "ENSG00000127578", "biotype": "protein_coding", "start": 629239, "end": 634117, "strand": "+", "slug": "wfikkn1" }, { "symbol": "METTL26", "ensemblId": "ENSG00000130731", "biotype": "protein_coding", "start": 634412, "end": 636378, "strand": "-", "slug": "mettl26" }, { "symbol": "MCRIP2", "ensemblId": "ENSG00000172366", "biotype": "protein_coding", "start": 636817, "end": 648475, "strand": "+", "slug": "mcrip2" }, { "symbol": "WDR90", "ensemblId": "ENSG00000161996", "biotype": "protein_coding", "start": 649287, "end": 667837, "strand": "+", "slug": "wdr90" }, { "symbol": "RHOT2", "ensemblId": "ENSG00000140983", "biotype": "protein_coding", "start": 668081, "end": 674174, "strand": "+", "slug": "rhot2" } ], "truncated": false }, "reports": [ { "slug": "hereditary-methaemoglobinaemia-and-unstable-haemoglobins", "name": "Erfelijke methemoglobinemie en instabiele hemoglobines", "diseases": [ { "mondoId": "MONDO:0007705", "name": "Heinz-body-anemie", "genes": 3, "inheritance": "autosomal-dominant", "description": "Een dominante vorm van hemolytische anemie waarbij instabiel hemoglobine klontert (Heinz-lichaampjes) binnenin rode bloedcellen.", "management": "Als u hiervan weet, helpt dit oxidatieve medicijnen te vermijden die de hemolyse kunnen verergeren.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/hereditary-methaemoglobinaemia-and-unstable-haemoglobins" }, { "slug": "polycythemia", "name": "Polycytemie", "diseases": [ { "mondoId": "MONDO:0054802", "name": "Familiale erytrocytose 7 (hemoglobine met hoge zuurstofaffiniteit, HBA1/HBA2)", "genes": 2, "inheritance": "autosomal-dominant", "description": "Een dominante vorm van erfelijke erytrocytose, veroorzaakt door varianten in alfa-globine die ervoor zorgen dat hemoglobine zuurstof te sterk vasthoudt, waardoor het lichaam meer rode bloedcellen aanmaakt om dit te compenseren.", "management": "Door de erfelijke oorzaak te kennen, kunt u niet worden verward met polycythaemia vera of andere verworven oorzaken, en worden onnodige onderzoeken voorkomen.", "evidence": { "gencc": [ "Genomics England PanelApp", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/polycythemia" }, { "slug": "thalassaemia", "name": "Thalassemie", "diseases": [ { "mondoId": "MONDO:0000984", "name": "Thalassemie", "genes": 3, "inheritance": null, "description": "Een groep erfelijke hemoglobineziekten, veroorzaakt door een verminderde of afwezige aanmaak van alfa- of bètaglobineketens.", "management": "Transfusie en ijzerchelatie (thalassemia major); hydroxyurea; genetherapie met betibeglogene autotemcel (Zynteglo) en exagamglogene autotemcel (Casgevy) voor transfusie-afhankelijke ziekte; transplantatie van hematopoëtische stamcellen", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/thalassaemia" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-hemoglobin", "name": "Abnormal hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-hemoglobin" }, { "slug": "abnormal-speech-pattern", "name": "Abnormal speech pattern", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-speech-pattern" }, { "slug": "microcephaly", "name": "Abnormally small head", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/microcephaly" }, { "slug": "aplasia-hypoplasia-of-the-earlobes", "name": "Absent/small ear lobes", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-earlobes" }, { "slug": "broad-forehead", "name": "Broad forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/broad-forehead" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "talipes-equinovarus", "name": "Club feet", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/talipes-equinovarus" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "posteriorly-rotated-ears", "name": "Ears rotated toward back of head", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/posteriorly-rotated-ears" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "epicanthus", "name": "Eye folds", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epicanthus" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "underdeveloped-supraorbital-ridges", "name": "Flattened bony protrusion above eyes", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/underdeveloped-supraorbital-ridges" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "hbh-hemoglobin", "name": "HbH hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hbh-hemoglobin" }, { "slug": "heinz-bodies", "name": "Heinz bodies", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/heinz-bodies" }, { "slug": "heinz-body-anemia", "name": "Heinz body anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/heinz-body-anemia" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "high-forehead", "name": "High forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-forehead" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "hydrops-fetalis", "name": "Hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hydrops-fetalis" }, { "slug": "hypochromic-microcytic-anemia", "name": "Hypochromic microcytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/hypochromic-microcytic-anemia" }, { "slug": "hypospadias", "name": "Hypospadias", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypospadias" }, { "slug": "increased-circulating-hemoglobin-concentration", "name": "Increased circulating hemoglobin concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/increased-circulating-hemoglobin-concentration" }, { "slug": "increased-hematocrit", "name": "Increased hematocrit", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/increased-hematocrit" }, { "slug": "polycythemia", "name": "Increased red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/polycythemia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "microcytic-anemia", "name": "Microcytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/microcytic-anemia" }, { "slug": "nonspherocytic-hemolytic-anemia", "name": "Nonspherocytic hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/nonspherocytic-hemolytic-anemia" }, { "slug": "pallor", "name": "Paleness", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/pallor" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "retrognathia", "name": "Receding chin", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retrognathia" }, { "slug": "reduced-alpha-beta-synthesis-ratio", "name": "Reduced alpha/beta synthesis ratio", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/reduced-alpha-beta-synthesis-ratio" }, { "slug": "short-neck", "name": "Short neck", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-neck" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "aplasia-hypoplasia-of-the-eyebrow", "name": "Sparse or absent eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow" }, { "slug": "pericarditis", "name": "Swelling or irritation of membrane around heart", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pericarditis" }, { "slug": "hydrocephalus", "name": "Too much cerebrospinal fluid in the brain", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hydrocephalus" }, { "slug": "cryptorchidism", "name": "Undescended testes", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cryptorchidism" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" }, { "slug": "hypertelorism", "name": "Wide-set eyes", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypertelorism" }, { "slug": "malar-flattening", "name": "Zygomatic flattening", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/malar-flattening" } ], "related": [ { "slug": "hba1", "symbol": "HBA1", "name": "hemoglobin subunit alpha 1", "shared": 3, "url": "https://dantelabs.com/nl/genes/hba1" }, { "slug": "hbb", "symbol": "HBB", "name": "hemoglobin subunit beta", "shared": 2, "url": "https://dantelabs.com/nl/genes/hbb" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 8, "url": "https://dantelabs.com/genes/hba2/variants", "items": [ { "slug": "c-x92a-g", "name": "c.*92A>G", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 173692, "grch37Position": 223691, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/hba2/variants/c-x92a-g" }, { "slug": "c-2del", "name": "c.2del", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 172913, "grch37Position": 222912, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/hba2/variants/c-2del" }, { "slug": "c-93to95plus2del", "name": "c.93_95+2del", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": null, "position": 173004, "grch37Position": 223003, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/hba2/variants/c-93to95plus2del" }, { "slug": "c105r", "name": "C105R", "commonName": null, "symbol": "HBA2", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.313T>C", "position": 173484, "grch37Position": 223483, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/hba2/variants/c105r" }, { "slug": "g60d", "name": "G60D", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": "c.179G>A", "position": 173208, "grch37Position": 223207, "part": { "kind": "exon", "number": 2 }, "url": "https://dantelabs.com/genes/hba2/variants/g60d" }, { "slug": "l30p", "name": "L30P", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": "c.89T>C", "position": 173001, "grch37Position": 223000, "part": { "kind": "exon", "number": 1 }, "url": "https://dantelabs.com/genes/hba2/variants/l30p" }, { "slug": "l126r", "name": "L126R", "commonName": null, "symbol": "HBA2", "classification": "likely-pathogenic", "stars": 3, "hgvsC": "c.377T>G", "position": 173548, "grch37Position": 223547, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/hba2/variants/l126r" }, { "slug": "x143qext31", "name": "X143Qext*31", "commonName": null, "symbol": "HBA2", "classification": "pathogenic", "stars": 3, "hgvsC": "c.427T>C", "position": 173598, "grch37Position": 223597, "part": { "kind": "exon", "number": 3 }, "url": "https://dantelabs.com/genes/hba2/variants/x143qext31" } ] } }