Gene
HBG2
hemoglobin subunit gamma 2
- HGNC 4832↗(opens in a new tab)
- Ensembl gene ENSG00000196565↗(opens in a new tab)
- NCBI Gene 3048↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.4
- Coordinates
- Chromosome 11: 5,253,188–5,254,781 (GRCh38)
- Exons
- 3 exons across 1.6 kb
- Protein
- 147 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- HBG-T1
- MANE Select transcript
- ENST00000336906.6NM_000184.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Thalassaemia
- Beta-Thalassaemia and Related DisordersAutosomal recessive
Disorders of beta-globin production, including beta-thalassaemia, haemoglobin E-beta-thalassaemia, delta-beta-thalassaemia and haemoglobin Lepore, ranging from carrier states with mild anaemia to transfusion-dependent disease.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Carrier status is relevant to family planning, and affected people may need transfusions, iron chelation or newer treatments.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How HBG2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 0.6 kb of the gene's 1.6 kb; 444 of those bases code for the protein.
How a genome test reads HBG2
2
positions in HBG2 where ClinVar classes a change as pathogenic or likely pathogenic
2 of them (100%) fall in regions short reads find hard.
- Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 1.6 kb of HBG2, introns included, not only the 0.6 kb of exons.
Genes linked to the same conditions
Traits linked to HBG2
The Human Phenotype Ontology lists these as features of the rare conditions HBG2 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HBG2 gene: hemoglobin subunit gamma 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/hbg2
Dante Labs. HBG2 gene: hemoglobin subunit gamma 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hbg2
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