Canonical Allele Identifier: CA007036
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1329101
ClinVar RCV Id: RCV001799144
dbSNP Id: rs794728020
MyVariant Identifiers: chr10:g.90708609C>T (hg19) chr10:g.88948852C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88948852C>T , CM000672.2:g.88948852C>T GRCh38
NC_000010.10:g.90708609C>T , CM000672.1:g.90708609C>T GRCh37
NC_000010.9:g.90698589C>T NCBI36
NG_011541.1:g.47539G>A , LRG_781:g.47539G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000415557.2:c.79G>A (ACTA2) ENSP00000396730.2:p.Asp27Asn
ENST00000458159.6:c.79G>A (ACTA2) ENSP00000398239.2:p.Asp27Asn
ENST00000480297.6:n.145G>A (ACTA2)
ENST00000482085.2:n.145G>A (ACTA2)
ENST00000224784.10:c.79G>A (ACTA2) MANE Select ENSP00000224784.6:p.Asp27Asn
ENST00000371927.7:c.1255-24330C>T (STAMBPL1) ENSP00000360995.3:n.1255-24330C>T
ENST00000415557.1:c.79G>A (ACTA2) ENSP00000396730.1:p.Asp27Asn
ENST00000458159.5:c.79G>A (ACTA2) ENSP00000398239.1:p.Asp27Asn
ENST00000458208.5:c.79G>A (ACTA2) ENSP00000402373.1:p.Asp27Asn
ENST00000480297.5:n.119G>A (ACTA2)
ENST00000482085.1:n.145G>A (ACTA2)
ENST00000488967.5:n.145G>A (ACTA2)
NM_001141945.1:c.79G>A , LRG_781t2:c.79G>A (ACTA2) NP_001135417.1:p.Asp27Asn
NM_001613.2:c.79G>A , LRG_781t1:c.79G>A (ACTA2) NP_001604.1:p.Asp27Asn
XM_011540016.1:c.79G>A (ACTA2) XP_011538318.1:p.Asp27Asn
NM_001141945.2:c.79G>A (ACTA2) NP_001135417.1:p.Asp27Asn
NM_001320855.1:c.79G>A (ACTA2) NP_001307784.1:p.Asp27Asn
NM_001613.3:c.79G>A (ACTA2) NP_001604.1:p.Asp27Asn
NM_001613.4:c.79G>A (ACTA2) MANE Select NP_001604.1:p.Asp27Asn
Search 100 bp 5'
Search 100 bp 3'