COL1A2

collagen type I alpha 2 chain

Summary

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Known Variants1,697 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3902017:94,023,646C/A—benign
rs7539747897:94,023,916G/A—uncertain significance
rs9398827987:94,023,926G/A—uncertain significance
rs17915443047:94,023,947A/T—uncertain significance
rs8860625117:94,023,979A/G—uncertain significance
rs1909262567:94,024,057C/T—likely benign
rs1829242227:94,024,080C/A—uncertain significance
rs9086530507:94,024,140T/G—uncertain significance
rs11809298897:94,024,150C/T—uncertain significance
rs8860625127:94,024,156C/T—uncertain significance
rs7691232887:94,024,192G/A—uncertain significance
rs15843101147:94,024,194G/C—uncertain significance
rs8860625137:94,024,257C/T—uncertain significance
rs7769258967:94,024,339T/C—likely benign
rs24846865597:94,024,344A/T—uncertain significance
rs17915548297:94,024,365C/T—uncertain significance
rs7587953777:94,024,372T/G—uncertain significance
rs24846866067:94,024,375T/C—uncertain significance
rs15843102527:94,024,379G/C—likely benign
rs7806874097:94,024,391C/T—likely benign
rs2002784017:94,024,395T/C—uncertain significance
rs17915562917:94,024,400A/G—likely benign
rs7774267777:94,024,401G/A—uncertain significance
rs7790224187:94,024,403A/C—likely benign
rs24846866837:94,024,410C/T—not provided
rs7707544427:94,024,412A/G—conflicting classifications of pathogenicity
rs9822060077:94,024,421C/T—likely benign
rs24846867027:94,024,422C/T—likely benign
rs17915571177:94,024,431G/A—likely benign
rs1148456817:94,024,931A/G—benign
rs1160650147:94,025,072G/T—likely benign
rs1404527157:94,025,087A/G—likely benign
rs726563547:94,025,130A/G—pathogenic
rs1510000157:94,025,217T/C—likely benign
rs1138019997:94,026,728T/C—likely benign
rs1448407497:94,026,810T/C—likely benign
rs1485782597:94,026,862A/T—likely benign
rs1843247357:94,026,898G/A—likely benign
rs24846901537:94,027,049T/C—likely benign
rs7748424227:94,027,053T/C—conflicting classifications of pathogenicity
rs2010761417:94,027,054C/A—uncertain significance
rs7635460067:94,027,060C/G—uncertain significance
rs13138659707:94,027,066A/G—uncertain significance
rs7570271447:94,027,067A/G—likely benign
rs13830101387:94,027,068G/A—uncertain significance
rs21158517777:94,027,070G/C—uncertain significance
rs7651188847:94,027,078A/C—conflicting classifications of pathogenicity
rs13960304287:94,027,079A/G—likely benign
rs7502830927:94,027,080A/C—likely benign
rs17916121547:94,027,082T/A—likely benign
rs7583842187:94,027,085T/C—likely benign
rs11834358207:94,027,088T/A—likely benign
rs624646187:94,027,172T/C—likely benign
rs1136400987:94,027,508C/T—likely benign
rs798319517:94,027,531T/C—benign
rs5745209247:94,027,677G/C—likely benign
rs1436894697:94,027,682A/G—benign
rs24846909547:94,027,688T/C—uncertain significance
rs14796959067:94,027,694G/A—uncertain significance
rs18011827:94,027,699T/Csynonymous variantbenign
rs7660900507:94,027,702A/G—likely benign
rs1853411107:94,027,718C/T—likely benign
rs15543946497:94,027,721T/C—likely benign
rs17916238757:94,027,723C/T—likely benign
rs12354380397:94,027,728C/A—likely benign
rs17916352327:94,028,350C/A—likely benign
rs3742822577:94,028,354C/T—likely benign
rs7757732957:94,028,356T/C—likely benign
rs17916355107:94,028,362G/T—uncertain significance
rs5339179987:94,028,369C/T—conflicting classifications of pathogenicity
rs3684471577:94,028,370G/A—uncertain significance
rs17916358447:94,028,374A/G—uncertain significance
rs14621081347:94,028,378A/G—conflicting classifications of pathogenicity
rs24846920207:94,028,379G/A—conflicting classifications of pathogenicity
rs13636894627:94,028,382C/A—uncertain significance
rs7694570347:94,028,385C/T—uncertain significance
rs1395286137:94,028,386G/A—likely benign
rs7627066697:94,028,389G/A—uncertain significance
rs12629844297:94,028,399G/A—uncertain significance
rs7513806367:94,028,403A/G—likely benign
rs7534606957:94,028,410G/T—likely benign
rs7674081097:94,028,416T/C—likely benign
rs47291317:94,028,427A/G—benign
rs1151735177:94,028,592C/T—likely benign
rs1412793807:94,029,481C/T—likely benign
rs7487986437:94,029,489C/G—likely benign
rs3700959317:94,029,491C/T—likely benign
rs9923303647:94,029,493C/G—uncertain significance
rs7738399037:94,029,503A/G—conflicting classifications of pathogenicity
rs15628975617:94,029,505C/A—uncertain significance
rs1486390887:94,029,513A/C—likely benign
rs7718004207:94,029,514C/A—uncertain significance
rs7605719667:94,029,520C/A—uncertain significance
rs7640649797:94,029,521C/A—uncertain significance
rs8793441297:94,029,523C/T—uncertain significance
rs3776376987:94,029,524C/T—uncertain significance
rs3696956457:94,029,525A/G—conflicting classifications of pathogenicity
rs21158603737:94,029,528C/A—likely benign
rs24846936067:94,029,532G/A—uncertain significance
rs2016993487:94,029,534T/A—uncertain significance

Showing 100 of 1,697 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.