COL4A2

collagen type IV alpha 2 chain

Summary

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]

Known Variants1,336 total

rsidPosition (GRCh37)AllelesClassClinVar
rs798982313:110,959,643A/G—uncertain significance
rs144482059813:110,959,679C/T—uncertain significance
rs128534038113:110,959,700C/T—uncertain significance
rs99619148013:110,959,803C/T—uncertain significance
rs89527478413:110,959,833G/A—conflicting classifications of pathogenicity
rs54782705913:110,959,843G/A—uncertain significance
rs732752813:110,960,044G/C—benign
rs14393080513:110,960,067G/C—likely benign
rs7653692213:110,960,164C/T—benign
rs88604996613:110,960,202T/C—uncertain significance
rs37339520713:110,960,206G/C—uncertain significance
rs75297637313:110,960,254G/C—uncertain significance
rs20097018413:110,960,256G/T—likely benign
rs159413541213:110,960,278G/A—uncertain significance
rs77310833613:110,960,287C/G—uncertain significance
rs250184492113:110,960,289A/G—likely benign
rs37776146713:110,960,303C/T—likely benign
rs75639833713:110,960,304T/A—likely benign
rs37129575213:110,960,309G/T—likely benign
rs7412410113:110,960,372C/T—benign
rs213933443113:110,960,399C/T—likely benign
rs55230680613:110,960,408C/T—likely benign
rs250184579313:110,960,415G/A—uncertain significance
rs20043040713:110,960,420C/G—conflicting classifications of pathogenicity
rs74899622613:110,960,426C/T—likely benign
rs77070706613:110,960,431G/T—likely benign
rs104300928113:110,960,438A/G—uncertain significance
rs77417152013:110,960,440C/T—likely benign
rs133861822613:110,960,453G/A—uncertain significance
rs213933459213:110,960,454C/T—uncertain significance
rs36798413613:110,960,460G/A—uncertain significance
rs76073926013:110,960,463T/C—uncertain significance
rs20042847613:110,960,474A/G—uncertain significance
rs116779774813:110,960,477C/G—likely benign
rs20052329513:110,960,486C/T—benign
rs250184618513:110,960,489G/T—likely benign
rs477314313:110,960,685T/C—benign
rs1287651713:111,009,643A/G—benign
rs36821637813:111,009,801T/C—likely benign
rs116637462913:111,009,813T/C—likely benign
rs250194270013:111,009,822G/A—uncertain significance
rs250194273013:111,009,828A/C—uncertain significance
rs77998259713:111,009,830G/C—uncertain significance
rs54058183013:111,009,840C/T—uncertain significance
rs76875121013:111,009,842G/A—likely benign
rs250194280213:111,009,843T/C—uncertain significance
rs105325616413:111,009,862G/T—conflicting classifications of pathogenicity
rs37223496613:111,009,882C/A—uncertain significance
rs101180670913:111,009,883C/T—uncertain significance
rs187733216413:111,009,884T/G—likely benign
rs209470113:111,010,078A/G—benign
rs955977913:111,014,826G/Aintron variant—
rs952171913:111,017,784G/T——
rs951519613:111,018,163T/A——
rs733374813:111,018,729C/Gintron variant—
rs477316913:111,019,462A/Cintron variant—
rs188800413:111,019,895T/Cintron variant—
rs731931113:111,030,578A/Gintron variant—
rs55147328413:111,038,325T/C——
rs7581635213:111,038,326C/T——
rs7852578513:111,038,331C/A——
rs7534538913:111,038,379T/C——
rs477167413:111,039,070A/Gintron variant—
rs951520113:111,040,798A/Cregulatory region variant—
rs951520313:111,049,623T/Cregulatory region variantbenign
rs800018913:111,075,881C/Tintron variant—
rs477167813:111,076,940T/C—benign
rs11581742513:111,077,018G/A—benign
rs20014020313:111,077,063C/A—benign
rs74953737213:111,077,064C/A—likely benign
rs37092655313:111,077,065T/C—benign
rs89851901713:111,077,072T/C—likely benign
rs250205030613:111,077,086G/T—uncertain significance
rs188040124913:111,077,097T/C—uncertain significance
rs104277028213:111,077,104C/G—likely benign
rs117556283913:111,077,105C/T—uncertain significance
rs91088960513:111,077,107G/A—likely benign
rs250205040013:111,077,116T/C—likely benign
rs250205040513:111,077,117G/C—uncertain significance
rs76478273313:111,077,140C/T—likely benign
rs75006123713:111,077,142C/T—conflicting classifications of pathogenicity
rs75803687513:111,077,143G/A—likely benign
rs129475718713:111,077,153G/A—uncertain significance
rs188040459413:111,077,156C/T—uncertain significance
rs75127230113:111,077,157G/A—likely benign
rs250205050013:111,077,174G/T—likely pathogenic
rs188040575613:111,077,181G/A—uncertain significance
rs75482921013:111,077,184C/T—uncertain significance
rs188040630313:111,077,186C/T—uncertain significance
rs74815722713:111,077,187C/T—uncertain significance
rs37049037213:111,077,188C/T—likely benign
rs74950190413:111,077,190G/A—uncertain significance
rs213945400813:111,077,192G/A—uncertain significance
rs423827213:111,077,197G/A—benign
rs125140029613:111,077,198G/A—uncertain significance
rs77466035513:111,077,202C/A—likely benign
rs130225462513:111,077,205A/G—uncertain significance
rs37608102313:111,077,210G/A—conflicting classifications of pathogenicity
rs77243969613:111,077,213G/A—uncertain significance
rs14590075713:111,077,219C/T—likely benign

Showing 100 of 1,336 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.