Canonical Allele Identifier: CA595185107

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• dbSNP Id: rs1185368772
• gnomAD v2: 10-90697769-G-A
• gnomAD v4: 10-88938012-G-A
• MyVariant Identifiers: chr10:g.90697769G>A (hg19) ; chr10:g.88938012G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88938012G>A , CM000672.2:g.88938012G>A	GRCh38
NC_000010.10:g.90697769G>A , CM000672.1:g.90697769G>A	GRCh37
NC_000010.9:g.90687749G>A	NCBI36
NG_011541.1:g.58379C>T , LRG_781:g.58379C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.990+49C>T (ACTA2)	ENSP00000396730.2:n.990+49C>T
ENST00000458159.6:c.990+49C>T (ACTA2)	ENSP00000398239.2:n.990+49C>T
ENST00000480297.6:n.2586+49C>T (ACTA2)
ENST00000224784.10:c.990+49C>T (ACTA2) MANE Select	ENSP00000224784.6:n.990+49C>T
ENST00000371927.7:c.1254+15576G>A (STAMBPL1)	ENSP00000360995.3:n.1254+15576G>A
ENST00000458208.5:c.990+49C>T (ACTA2)	ENSP00000402373.1:n.990+49C>T
NM_001141945.1:c.990+49C>T , LRG_781t2:c.990+49C>T (ACTA2)	NP_001135417.1:n.990+49C>T
NM_001613.2:c.990+49C>T , LRG_781t1:c.990+49C>T (ACTA2)	NP_001604.1:n.990+49C>T
NR_125373.1:n.1199-200G>A (ACTA2-AS1)
XM_011540016.1:c.990+49C>T (ACTA2)	XP_011538318.1:n.990+49C>T
NM_001141945.2:c.990+49C>T (ACTA2)	NP_001135417.1:n.990+49C>T
NM_001320855.1:c.990+49C>T (ACTA2)	NP_001307784.1:n.990+49C>T
NM_001613.3:c.990+49C>T (ACTA2)	NP_001604.1:n.990+49C>T
NM_001613.4:c.990+49C>T (ACTA2) MANE Select	NP_001604.1:n.990+49C>T