Canonical Allele Identifier: CA10582772

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 239035
• ClinVar RCV Id: RCV000234063 ; RCV001170187 ; RCV003401174 ; RCV003441812
• dbSNP Id: rs878854465
• MyVariant Identifiers: chr10:g.90694982A>G (hg19) ; chr10:g.88935225A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935225A>G , CM000672.2:g.88935225A>G	GRCh38
NC_000010.10:g.90694982A>G , CM000672.1:g.90694982A>G	GRCh37
NC_000010.9:g.90684962A>G	NCBI36
NG_011541.1:g.61166T>C , LRG_781:g.61166T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.1132T>C (ACTA2)	ENSP00000396730.2:p.Ter378Gln
ENST00000458159.6:c.1132T>C (ACTA2)	ENSP00000398239.2:p.Ter378Gln
ENST00000480297.6:n.2728T>C (ACTA2)
ENST00000224784.10:c.1132T>C (ACTA2) MANE Select	ENSP00000224784.6:p.Ter378Gln
ENST00000371927.7:c.1254+12789A>G (STAMBPL1)	ENSP00000360995.3:n.1254+12789A>G
ENST00000458208.5:c.1132T>C (ACTA2)	ENSP00000402373.1:p.Ter378Gln
NM_001141945.1:c.1132T>C , LRG_781t2:c.1132T>C (ACTA2)	NP_001135417.1:p.Ter378Gln
NM_001613.2:c.1132T>C , LRG_781t1:c.1132T>C (ACTA2)	NP_001604.1:p.Ter378Gln
NR_125373.1:n.850A>G (ACTA2-AS1)
XM_011540016.1:c.1132T>C (ACTA2)	XP_011538318.1:p.Ter378Gln
NM_001141945.2:c.1132T>C (ACTA2)	NP_001135417.1:p.Ter378Gln
NM_001320855.1:c.1132T>C (ACTA2)	NP_001307784.1:p.Ter378Gln
NM_001613.3:c.1132T>C (ACTA2)	NP_001604.1:p.Ter378Gln
NM_001613.4:c.1132T>C (ACTA2) MANE Select	NP_001604.1:p.Ter378Gln