Canonical Allele Identifier: CA211320346

Linked Data

dbSNP Id: rs2234767

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88989499G>T , CM000672.2:g.88989499G>T GRCh38
NC_000010.10:g.90749256G>T , CM000672.1:g.90749256G>T GRCh37
NC_000010.9:g.90739236G>T NCBI36
NG_009089.2:g.3969G>T , LRG_134:g.3969G>T
NG_011541.1:g.6892C>A , LRG_781:g.6892C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.-24+1440C>A (ACTA2) ENSP00000396730.2:n.-24+1440C>A
ENST00000458159.6:c.-24+1523C>A (ACTA2) ENSP00000398239.2:n.-24+1523C>A
ENST00000696723.1:n.3583G>T (FAS)
ENST00000696992.1:n.1067G>T (FAS)
ENST00000688239.1:n.291G>T (FAS)
ENST00000690268.1:c.31G>T (FAS) ENSP00000509810.1:p.Ala11Ser
ENST00000415557.1:c.-24+1440C>A (ACTA2) ENSP00000396730.1:n.-24+1440C>A
ENST00000458159.5:c.-24+1523C>A (ACTA2) ENSP00000398239.1:n.-24+1523C>A
ENST00000458208.5:c.-24+1440C>A (ACTA2) ENSP00000402373.1:n.-24+1440C>A
NM_001141945.1:c.-24+1440C>A , LRG_781t2:c.-24+1440C>A (ACTA2) NP_001135417.1:n.-24+1440C>A
XM_006717819.2:c.31G>T (FAS) XP_006717882.1:p.Ala11Ser
XM_011539764.1:c.112G>T (FAS) XP_011538066.1:p.Ala38Ser
XM_011539765.1:c.112G>T (FAS) XP_011538067.1:p.Ala38Ser
XM_011539766.1:c.31G>T (FAS) XP_011538068.1:p.Ala11Ser
XM_011540016.1:c.-24+1523C>A (ACTA2) XP_011538318.1:n.-24+1523C>A
XR_945732.1:n.127G>T (FAS)
XR_945733.1:n.127G>T (FAS)
NM_001141945.2:c.-24+1440C>A (ACTA2) NP_001135417.1:n.-24+1440C>A
NM_001320855.1:c.-24+1523C>A (ACTA2) NP_001307784.1:n.-24+1523C>A
XM_006717819.3:c.31G>T (FAS) XP_006717882.1:p.Ala11Ser
XM_011539764.2:c.112G>T (FAS) XP_011538066.1:p.Ala38Ser
XM_011539765.2:c.112G>T (FAS) XP_011538067.1:p.Ala38Ser
XM_011539766.2:c.31G>T (FAS) XP_011538068.1:p.Ala11Ser
XR_945732.3:n.127G>T (FAS)
XR_945733.2:n.127G>T (FAS)