Gene
COL6A2
collagen type VI alpha 2 chain
- HGNC 2212(opens in a new tab)
- Ensembl gene ENSG00000142173(opens in a new tab)
- NCBI Gene 1292(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.3
- Coordinates
- Chromosome 21: 46,098,112–46,132,848 (GRCh38)
- Exons
- 28 exons across 34.7 kb
- Protein
- 1,019 amino acids
- MANE Select transcript
- ENST00000300527.9NM_001849.4
- 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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Congenital Muscular Dystrophies
- Collagen VI-related myopathy
A spectrum of muscle disorders caused by COL6A1, COL6A2 or COL6A3 variants, ranging from severe Ullrich congenital muscular dystrophy to milder Bethlem myopathy, with weakness and joint contractures.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
- Congenital muscular dystrophy
A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).
- 3 GenCC submitters rate it definitive or strong
Limb-Girdle Muscular Dystrophy
Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.
- 2 GenCC submitters rate it definitive or strong
How COL6A2 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 3.4 kb of the gene's 34.7 kb; 3,060 of those bases code for the protein.
How a genome test reads COL6A2
183
positions in COL6A2 where ClinVar classes a change as pathogenic or likely pathogenic
2 of them (1.1%) fall in regions short reads find hard.
- Low mappability (2 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 34.7 kb of COL6A2, introns included, not only the 3.4 kb of exons.
Traits linked to COL6A2
The Human Phenotype Ontology lists these as features of the rare conditions COL6A2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Abnormality of skeletal muscle fiber size
- Centrally nucleated skeletal muscle fibers
- Elbow contracture
- Increased endomysial connective tissue
- Increased variability in muscle fiber diameter
- Low muscle tone
- Muscle degeneration
- Muscle fiber necrosis
Show 30 more traits
- Muscle fiber splitting
- Muscle weakness
- Neck flexion weakness
- Proximal neurogenic muscle weakness
- Reduced muscle collagen VI
- Shoulder contracture
- Abnormal muscle fiber morphology
- EMG: myopathic abnormalities
- Flexed joint that cannot be straightened
- Generalized muscle weakness
- Hunched back
- Increased wrist mobility
- Muscular dystrophy
- Progressive proximal muscle weakness
- Reduced spine movement
- Diffuse skeletal muscle wasting
- Frequent falls
- Generalized decreased muscle tone
- Multiple joint contractures
- Neck muscle weakness
- Scoliosis
- Weak diaphragm
- Weakness of outermost muscles
- Axial muscle weakness
- Double-Jointed
- Excessive inward curvature of lower spine
- Gowers sign
- Reduced maximal expiratory pressure
- Rimmed vacuoles
- Thoracolumbar scoliosis
Abnormality of limbs
- Ankle contracture
- Hip contracture
- Increased mobility in finger joint
- Shortening of the achilles tendon
- Increased laxity of fingers
- Knee contracture
- Ankle flexion contracture
- Elbow flexion contracture
Show 15 more traits
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.). COL6A2 gene: collagen type VI alpha 2 chain. Retrieved 16 October 2026, from https://dantelabs.com/genes/col6a2
Dante Labs. COL6A2 gene: collagen type VI alpha 2 chain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/col6a2
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