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Gene entry

COL5A2

collagen type V alpha 2 chain

Chromosome
2
Cytoband
2q32.2
Variants (rsID)
35

COL5A2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q32.2). Its official name is “collagen type V alpha 2 chain”. The reference table lists 35 variants (rsID) for this gene.

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Clinically classified variants

19 reference-table entries with clinical significance.

  • rs116298748Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome
  • rs13383261Benignsingle nucleotide variant
  • rs13914Benignsingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2
  • rs35830636Benignsingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome
  • rs76148000Benignsingle nucleotide variantEhlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome
  • rs139656817Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome, classic type, 1
  • rs140952583Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Thrombocytopenia|Abnormal bleeding|Ehlers-Danlos syndrome|Ehlers-Danlos syndrome, classic type, 1
  • rs142544320Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
  • rs146789395Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|Connective tissue disorder|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2
  • rs148590409Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2
  • rs150260969Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Ehlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 1|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome
  • rs367643805Conflicting interpretationssingle nucleotide variantDisproportionate tall stature|Familial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome
  • rs368713290Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 1
  • rs372227642Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Connective tissue disorder|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1|Ehlers-Danlos syndrome
  • rs549894501Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Cardiovascular phenotype|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1
  • rs776578452Conflicting interpretationssingle nucleotide variantEhlers-Danlos syndrome type 7A|Ehlers-Danlos syndrome, classic type, 2|Ehlers-Danlos syndrome, classic type, 1
  • rs56339059Likely benignsingle nucleotide variant
  • rs79111113Likely benignsingle nucleotide variant
  • rs121912930Pathogenicsingle nucleotide variantEhlers-Danlos syndrome, classic 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.