Canonical Allele Identifier: CA006873
Gene: ACTA2 HGNC NCBI
FAS HGNC NCBI

Linked Data

ClinVar Variation Id: 16517
ClinVar RCV Id: RCV003488343
dbSNP Id: rs2234767
ExAC: 10:90749256 G / A
gnomAD v2: 10-90749256-G-A
gnomAD v3: 10-88989499-G-A
gnomAD v4: 10-88989499-G-A
MyVariant Identifiers: chr10:g.90749256G>A (hg19) chr10:g.88989499G>A (hg38)
PubMed: PMID:15937082
Allelic Epigenome: Alellic Epigenome (raw data)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.-24+1440C>T (ACTA2) ENSP00000396730.2:n.-24+1440C>T
ENST00000458159.6:c.-24+1523C>T (ACTA2) ENSP00000398239.2:n.-24+1523C>T
ENST00000696723.1:n.3583G>A (FAS)
ENST00000696992.1:n.1067G>A (FAS)
ENST00000688239.1:n.291G>A (FAS)
ENST00000690268.1:c.31G>A (FAS) ENSP00000509810.1:p.Ala11Thr
ENST00000415557.1:c.-24+1440C>T (ACTA2) ENSP00000396730.1:n.-24+1440C>T
ENST00000458159.5:c.-24+1523C>T (ACTA2) ENSP00000398239.1:n.-24+1523C>T
ENST00000458208.5:c.-24+1440C>T (ACTA2) ENSP00000402373.1:n.-24+1440C>T
NM_001141945.1:c.-24+1440C>T , LRG_781t2:c.-24+1440C>T (ACTA2) NP_001135417.1:n.-24+1440C>T
XM_006717819.2:c.31G>A (FAS) XP_006717882.1:p.Ala11Thr
XM_011539764.1:c.112G>A (FAS) XP_011538066.1:p.Ala38Thr
XM_011539765.1:c.112G>A (FAS) XP_011538067.1:p.Ala38Thr
XM_011539766.1:c.31G>A (FAS) XP_011538068.1:p.Ala11Thr
XM_011540016.1:c.-24+1523C>T (ACTA2) XP_011538318.1:n.-24+1523C>T
XR_945732.1:n.127G>A (FAS)
XR_945733.1:n.127G>A (FAS)
NM_001141945.2:c.-24+1440C>T (ACTA2) NP_001135417.1:n.-24+1440C>T
NM_001320855.1:c.-24+1523C>T (ACTA2) NP_001307784.1:n.-24+1523C>T
XM_006717819.3:c.31G>A (FAS) XP_006717882.1:p.Ala11Thr
XM_011539764.2:c.112G>A (FAS) XP_011538066.1:p.Ala38Thr
XM_011539765.2:c.112G>A (FAS) XP_011538067.1:p.Ala38Thr
XM_011539766.2:c.31G>A (FAS) XP_011538068.1:p.Ala11Thr
XR_945732.3:n.127G>A (FAS)
XR_945733.2:n.127G>A (FAS)
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