Canonical Allele Identifier: CA377512289

Gene: ACTA2 STAMBPL1

Linked Data

• MyVariant Identifiers: chr10:g.90701102A>C (hg19) ; chr10:g.88941345A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941345A>C , CM000672.2:g.88941345A>C	GRCh38
NC_000010.10:g.90701102A>C , CM000672.1:g.90701102A>C	GRCh37
NC_000010.9:g.90691082A>C	NCBI36
NG_011541.1:g.55046T>G , LRG_781:g.55046T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.500T>G (ACTA2)	ENSP00000396730.2:p.Ile167Ser
ENST00000458159.6:c.500T>G (ACTA2)	ENSP00000398239.2:p.Ile167Ser
ENST00000480297.6:n.566T>G (ACTA2)
ENST00000224784.10:c.500T>G (ACTA2) MANE Select	ENSP00000224784.6:p.Ile167Ser
ENST00000371927.7:c.1254+18909A>C (STAMBPL1)	ENSP00000360995.3:n.1254+18909A>C
ENST00000458208.5:c.500T>G (ACTA2)	ENSP00000402373.1:p.Ile167Ser
ENST00000480297.5:n.540T>G (ACTA2)
NM_001141945.1:c.500T>G , LRG_781t2:c.500T>G (ACTA2)	NP_001135417.1:p.Ile167Ser
NM_001613.2:c.500T>G , LRG_781t1:c.500T>G (ACTA2)	NP_001604.1:p.Ile167Ser
XM_011540016.1:c.500T>G (ACTA2)	XP_011538318.1:p.Ile167Ser
NM_001141945.2:c.500T>G (ACTA2)	NP_001135417.1:p.Ile167Ser
NM_001320855.1:c.500T>G (ACTA2)	NP_001307784.1:p.Ile167Ser
NM_001613.3:c.500T>G (ACTA2)	NP_001604.1:p.Ile167Ser
NM_001613.4:c.500T>G (ACTA2) MANE Select	NP_001604.1:p.Ile167Ser