TPM2

tropomyosin 2

Summary

This gene encodes beta-tropomyosin, a member of the actin filament binding protein family, and mainly expressed in slow, type 1 muscle fibers. Mutations in this gene can alter the expression of other sarcomeric tropomyosin proteins, and cause cap disease, nemaline myopathy and distal arthrogryposis syndromes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2009]

Known Variants232 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5683933229:35,682,104T/C—uncertain significance
rs3766689439:35,682,107G/C—uncertain significance
rs11974124979:35,682,157G/C—uncertain significance
rs21318437319:35,682,162T/G—likely pathogenic
rs109725589:35,682,255G/C—benign
rs119989:35,682,296T/A—benign
rs1384119069:35,682,297T/C—likely benign
rs1451149379:35,682,347G/A—likely benign
rs1493824839:35,682,870C/T—benign
rs7767273189:35,682,879C/T—benign
rs9657437859:35,682,957G/A—uncertain significance
rs5611752769:35,682,962G/A—uncertain significance
rs8795056309:35,683,057T/C—uncertain significance
rs7815131529:35,683,131T/G—conflicting classifications of pathogenicity
rs18246694689:35,683,134G/T—uncertain significance
rs562499439:35,683,148C/T—benign
rs798825769:35,683,149G/A—benign
rs1485162419:35,683,165G/T—likely benign
rs12049069959:35,683,179G/A—uncertain significance
rs18246733999:35,683,181G/A—uncertain significance
rs3713253269:35,683,182C/T—uncertain significance
rs14727471799:35,683,195C/T—likely benign
rs2012153039:35,683,198G/A—likely benign
rs12202428479:35,683,227C/A—uncertain significance
rs18246760229:35,683,229T/C—pathogenic
rs24906707279:35,683,230A/G—uncertain significance
rs15546584929:35,683,238T/A—likely pathogenic
rs1994761579:35,683,241G/T—uncertain significance
rs12305410179:35,683,243G/C—uncertain significance
rs11750057539:35,683,247G/T—likely benign
rs10410513539:35,683,253G/A—likely benign
rs1113703999:35,683,257G/A—likely benign
rs1413370319:35,683,378A/G—likely benign
rs27897509:35,683,473C/G—benign
rs1158071709:35,683,965A/G—likely benign
rs15879550209:35,684,250G/A—likely benign
rs14197862939:35,684,255C/T—uncertain significance
rs10575242929:35,684,256G/A—likely benign
rs14767397809:35,684,258T/C—uncertain significance
rs7731537239:35,684,260G/A—uncertain significance
rs14314324899:35,684,268C/T—likely benign
rs24906754509:35,684,272T/A—uncertain significance
rs3773424949:35,684,280A/T—likely benign
rs7516756239:35,684,286C/T—likely benign
rs7755610439:35,684,288C/T—uncertain significance
rs764140359:35,684,289G/A—conflicting classifications of pathogenicity
rs24906755289:35,684,290G/T—uncertain significance
rs7566714609:35,684,296T/C—uncertain significance
rs7783782389:35,684,302C/A—uncertain significance
rs8878094559:35,684,317G/A—likely benign
rs21318487609:35,684,321A/G—likely benign
rs1167157209:35,684,425G/A—likely benign
rs11610086249:35,684,468T/G—likely benign
rs18045589:35,684,488C/A—not provided
rs7793974999:35,684,508G/C—uncertain significance
rs17946315319:35,684,515C/T—likely benign
rs1480036129:35,684,518C/T—likely benign
rs5675934109:35,684,521T/C—likely benign
rs14658360039:35,684,524A/T—pathogenic
rs7492199289:35,684,534T/G—uncertain significance
rs12314880239:35,684,542G/A—likely benign
rs11892789059:35,684,544A/C—uncertain significance
rs15879557109:35,684,551T/C—uncertain significance
rs16615881049:35,684,556G/A—likely benign
rs3740696359:35,684,562C/T—likely benign
rs7740747119:35,684,564C/G—likely benign
rs14556927889:35,684,566C/T—likely benign
rs7720789549:35,684,567G/T—likely benign
rs1451920649:35,684,581G/A—likely benign
rs1145345679:35,684,696C/A—likely benign
rs7775133039:35,684,713C/T—likely benign
rs7491602499:35,684,719T/C—likely benign
rs14074674169:35,684,723C/G—uncertain significance
rs15546587849:35,684,733T/C—uncertain significance
rs1997584329:35,684,735C/T—likely benign
rs7788743749:35,684,736G/A—uncertain significance
rs1994761549:35,684,740G/A—pathogenic
rs21318497649:35,684,741G/C—likely benign
rs24906778559:35,684,749G/A—likely benign
rs3700790739:35,684,750G/T—likely benign
rs1378533079:35,684,762G/C—pathogenic
rs21318498359:35,684,779G/A—likely benign
rs7770139509:35,684,780C/T—likely benign
rs11973969149:35,684,791G/C—uncertain significance
rs13690775989:35,684,799C/T—uncertain significance
rs21318499039:35,684,803T/C—uncertain significance
rs12972230049:35,684,811G/T—uncertain significance
rs7634293179:35,684,813G/A—conflicting classifications of pathogenicity
rs7562077789:35,684,822C/G—likely benign
rs13743223769:35,684,823G/C—likely benign
rs7636909419:35,684,824G/A—likely benign
rs18248153989:35,685,091G/A—likely benign
rs15546588659:35,685,101A/G—uncertain significance
rs10717169:35,685,135G/A—uncertain significance
rs3703520409:35,685,248A/T—benign
rs2016337479:35,685,249C/T—likely benign
rs7594957799:35,685,251C/A—uncertain significance
rs2006447869:35,685,253C/G—likely benign
rs1853973769:35,685,254G/A—likely benign
rs7575454439:35,685,267T/A—uncertain significance

Showing 100 of 232 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.