Canonical Allele Identifier: CA13226452

Linked Data

ClinVar Variation Id: 779595
ClinVar RCV Id: RCV000960460
dbSNP Id: rs1800682

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88990206A>G , CM000672.2:g.88990206A>G GRCh38
NC_000010.10:g.90749963A>G , CM000672.1:g.90749963A>G GRCh37
NC_000010.9:g.90739943A>G NCBI36
NG_009089.2:g.4676A>G , LRG_134:g.4676A>G
NG_011541.1:g.6185T>C , LRG_781:g.6185T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.1:c.-24+733T>C ENSP00000396730.1:p.=
ENST00000458159.5:c.-24+816T>C ENSP00000398239.1:p.=
ENST00000458208.5:c.-24+733T>C ENSP00000402373.1:p.=
NM_001141945.1:c.-24+733T>C , LRG_781t2:c.-24+733T>C (ACTA2) NP_001135417.1:p.=
XM_006717819.2:c.111+627A>G (FAS) XP_006717882.1:p.=
XM_011539764.1:c.192+627A>G (FAS) XP_011538066.1:p.=
XM_011539765.1:c.192+627A>G (FAS) XP_011538067.1:p.=
XM_011539766.1:c.111+627A>G (FAS) XP_011538068.1:p.=
XM_011540016.1:c.-24+816T>C (ACTA2) XP_011538318.1:p.=
XR_945732.1:n.207+627A>G (FAS)
XR_945733.1:n.207+627A>G (FAS)
NM_001141945.2:c.-24+733T>C (ACTA2) NP_001135417.1:p.=
NM_001320855.1:c.-24+816T>C (ACTA2) NP_001307784.1:p.=
XM_006717819.3:c.111+627A>G (FAS) XP_006717882.1:p.=
XM_011539764.2:c.192+627A>G (FAS) XP_011538066.1:p.=
XM_011539765.2:c.192+627A>G (FAS) XP_011538067.1:p.=
XM_011539766.2:c.111+627A>G (FAS) XP_011538068.1:p.=
XR_945732.3:n.207+627A>G (FAS)
XR_945733.2:n.207+627A>G (FAS)