C2

complement C2

Summary

Component C2 is a serum glycoprotein that functions as part of the classical pathway of the complement system. Activated C1 cleaves C2 into C2a and C2b. The serine proteinase C2a then combines with complement factor 4b to create the C3 or C5 convertase. Deficiency of C2 has been reported to associated with certain autoimmune diseases and SNPs in this gene have been associated with altered susceptibility to age-related macular degeneration. This gene localizes within the class III region of the MHC on the short arm of chromosome 6. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described in publications but their full-length sequence has not been determined.[provided by RefSeq, Mar 2009]

Known Variants332 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1132099676:31,866,426T/Gregulatory region variant—
rs92676636:31,867,253C/Tregulatory region variant—
rs28444556:31,869,673C/G——
rs5587026:31,870,326G/Aregulatory region variant—
rs92676656:31,870,856C/Tupstream gene variant—
rs109472236:31,872,383G/Aupstream gene variant—
rs27639826:31,872,551G/A——
rs5863466:31,875,712T/A——
rs13139966:31,876,042T/G——
rs6228716:31,878,495A/Gregulatory region variant—
rs1151048506:31,879,377G/Aregulatory region variant—
rs5320866:31,881,309T/Cintron variant—
rs6850316:31,881,731G/T——
rs92676736:31,883,679C/A——
rs6440456:31,883,957A/Gintron variant—
rs31306826:31,884,823T/Cintron variant—
rs5455370736:31,885,088A/G——
rs31287596:31,885,930C/G——
rs4973096:31,892,484A/G——
rs5566796:31,894,355C/Tupstream gene variant—
rs1502994266:31,895,385A/C—likely benign
rs7762634116:31,895,493C/A—uncertain significance
rs7589666286:31,895,494G/A—uncertain significance
rs7645894476:31,895,509G/A—uncertain significance
rs12289347446:31,895,587G/T—likely benign
rs5380324326:31,895,591G/A—benign
rs10574419056:31,895,715T/G—likely benign
rs7622004366:31,895,723C/G—uncertain significance
rs7562486996:31,895,744C/T—uncertain significance
rs7664109426:31,895,745G/A—likely benign
rs14231905176:31,895,757C/T—likely benign
rs2000950966:31,895,758C/T—conflicting classifications of pathogenicity
rs2013365076:31,895,766C/T—conflicting classifications of pathogenicity
rs5618198856:31,895,775C/G—uncertain significance
rs2004121066:31,895,777C/T—uncertain significance
rs13977224896:31,895,778G/A—likely benign
rs3777507676:31,895,789T/C—uncertain significance
rs13103335226:31,895,794C/T—uncertain significance
rs17694007226:31,895,821C/T—uncertain significance
rs12776117806:31,895,834C/T—uncertain significance
rs7735954746:31,895,843A/G—uncertain significance
rs11915344276:31,895,845G/A—uncertain significance
rs10081279656:31,895,850G/A—likely benign
rs7666124616:31,895,858C/T—uncertain significance
rs7539870526:31,895,859C/T—likely benign
rs9610463506:31,895,861C/A—uncertain significance
rs7514532676:31,895,874G/C—likely benign
rs7571107476:31,895,886C/T—likely benign
rs7808948696:31,895,887G/A—uncertain significance
rs3766865306:31,895,892G/A—likely benign
rs7797838586:31,895,902C/T—uncertain significance
rs1379028896:31,895,903C/T—conflicting classifications of pathogenicity
rs21517403176:31,895,908G/A—uncertain significance
rs5666381286:31,895,913C/A—likely benign
rs7682311286:31,895,914C/T—uncertain significance
rs21517403486:31,895,916G/A—likely benign
rs5478812866:31,895,930C/T—conflicting classifications of pathogenicity
rs7546683086:31,895,931G/A—likely benign
rs7711484746:31,895,952C/T—likely benign
rs24824561966:31,896,494T/G—likely benign
rs14013898326:31,896,499C/T—likely benign
rs21517415856:31,896,511G/C—uncertain significance
rs1407672106:31,896,514C/T—uncertain significance
rs7712403446:31,896,515G/A—uncertain significance
rs13901901966:31,896,523G/A—uncertain significance
rs12882092556:31,896,531C/T—likely benign
rs2010236696:31,896,535T/G—uncertain significance
rs7754953856:31,896,550T/C—uncertain significance
rs3756851846:31,896,561G/T—benign
rs8860612926:31,896,565G/A—uncertain significance
rs14748506486:31,896,566G/T—uncertain significance
rs7649778446:31,896,576C/T—likely benign
rs7521543146:31,896,577G/A—uncertain significance
rs17694821016:31,896,589G/A—uncertain significance
rs1383583196:31,896,597C/T—conflicting classifications of pathogenicity
rs11838353166:31,896,600G/A—likely benign
rs14147466256:31,896,615C/G—uncertain significance
rs2004594016:31,896,622C/T—uncertain significance
rs1493242666:31,896,623G/A—uncertain significance
rs7493472176:31,896,629C/T—uncertain significance
rs17694894976:31,896,633T/A—likely benign
rs3679967216:31,896,638G/A—uncertain significance
rs14323909906:31,896,651C/T—likely benign
rs1470219656:31,896,654C/A—uncertain significance
rs24824598496:31,896,659T/G—uncertain significance
rs10238506206:31,896,673A/G—uncertain significance
rs21517422916:31,896,689A/G—uncertain significance
rs24824603496:31,896,694G/A—uncertain significance
rs3739380666:31,896,708C/T—likely benign
rs7768394116:31,896,709T/G—conflicting classifications of pathogenicity
rs24824606376:31,896,712T/C—likely benign
rs22573316:31,898,285A/Gintron variant—
rs1842655816:31,900,754G/T——
rs93327186:31,901,371C/T—benign
rs93327196:31,901,383G/A—conflicting classifications of pathogenicity
rs7613407346:31,901,390G/C—uncertain significance
rs9555226246:31,901,421C/T—likely benign
rs1381955056:31,901,422G/T—conflicting classifications of pathogenicity
rs7655810266:31,901,427G/A—likely benign
rs3772915496:31,901,429G/A—uncertain significance

Showing 100 of 332 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.