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Gene entry

COL2A1

collagen type II alpha 1 chain

Chromosome
12
Cytoband
12q13.11
Variants (rsID)
30

COL2A1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q13.11). Its official name is “collagen type II alpha 1 chain”. The reference table lists 30 variants (rsID) for this gene.

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Clinically classified variants

24 reference-table entries with clinical significance.

  • rs10875716Benignsingle nucleotide variantType II Collagenopathies|Stickler syndrome type 1
  • rs111570218Benignsingle nucleotide variantStickler syndrome type 1|Type II Collagenopathies|Connective tissue disorder
  • rs112469769Benignsingle nucleotide variantType II Collagenopathies|Stickler syndrome type 1|Connective tissue disorder
  • rs12721427Benignsingle nucleotide variantStickler syndrome type 1|Type II Collagenopathies
  • rs1635553Benignsingle nucleotide variantStickler syndrome type 1|Type II Collagenopathies
  • rs1635560Benignsingle nucleotide variant
  • rs41272041Benignsingle nucleotide variantType II Collagenopathies|Stickler syndrome type 1
  • rs121912886Conflicting interpretationssingle nucleotide variantSpondyloepiphyseal dysplasia congenita|Spondyloperipheral dysplasia
  • rs201823490Conflicting interpretationssingle nucleotide variantConnective tissue disorder
  • rs367625071Conflicting interpretationssingle nucleotide variantConnective tissue disorder
  • rs794727533Conflicting interpretationssingle nucleotide variant
  • rs121912866Pathogenicsingle nucleotide variantStickler syndrome type 1
  • rs121912870Pathogenicsingle nucleotide variantSpondyloepiphyseal dysplasia congenita|Spondyloepimetaphyseal dysplasia, Strudwick type|Stickler syndrome type 1|Namaqualand hip dysplasia|Connective tissue disorder
  • rs121912873PathogenicDeletionStickler syndrome type 1
  • rs121912874Pathogenicsingle nucleotide variantSpondyloepiphyseal dysplasia congenita|14 conditions|Spondyloperipheral dysplasia
  • rs121912877Pathogenicsingle nucleotide variantKniest dysplasia
  • rs121912880Pathogenicsingle nucleotide variantSpondylometaphyseal dysplasia
  • rs121912882Pathogenicsingle nucleotide variantMultiple epiphyseal dysplasia, Beighton type|Myopia
  • rs121912884Pathogenicsingle nucleotide variantStickler syndrome type 1|COL2A1-related disorders|Retinal dystrophy|Achondrogenesis type II|Stickler syndrome, type I, nonsyndromic ocular
  • rs121912885Pathogenicsingle nucleotide variantStickler syndrome, type I, nonsyndromic ocular|Stickler syndrome type 1
  • rs121912893Pathogenicsingle nucleotide variantStickler syndrome type 1|Autosomal dominant rhegmatogenous retinal detachment|14 conditions
  • rs748459670Pathogenicsingle nucleotide variantStickler syndrome type 1
  • rs864621973Pathogenicsingle nucleotide variantSpondyloepiphyseal dysplasia congenita
  • rs869312907Pathogenicsingle nucleotide variantSpondyloepiphyseal dysplasia, Stanescu type

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.