Canonical Allele Identifier: CA470730011

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• dbSNP Id: rs1157018882
• gnomAD v2: 10-90698026-C-T
• gnomAD v3: 10-88938269-C-T
• gnomAD v4: 10-88938269-C-T
• MyVariant Identifiers: chr10:g.90698026C>T (hg19) ; chr10:g.88938269C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88938269C>T , CM000672.2:g.88938269C>T	GRCh38
NC_000010.10:g.90698026C>T , CM000672.1:g.90698026C>T	GRCh37
NC_000010.9:g.90688006C>T	NCBI36
NG_011541.1:g.58122G>A , LRG_781:g.58122G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.809-27G>A (ACTA2)	ENSP00000396730.2:n.809-27G>A
ENST00000458159.6:c.809-27G>A (ACTA2)	ENSP00000398239.2:n.809-27G>A
ENST00000480297.6:n.2405-27G>A (ACTA2)
ENST00000224784.10:c.809-27G>A (ACTA2) MANE Select	ENSP00000224784.6:n.809-27G>A
ENST00000371927.7:c.1254+15833C>T (STAMBPL1)	ENSP00000360995.3:n.1254+15833C>T
ENST00000458208.5:c.809-27G>A (ACTA2)	ENSP00000402373.1:n.809-27G>A
NM_001141945.1:c.809-27G>A , LRG_781t2:c.809-27G>A (ACTA2)	NP_001135417.1:n.809-27G>A
NM_001613.2:c.809-27G>A , LRG_781t1:c.809-27G>A (ACTA2)	NP_001604.1:n.809-27G>A
NR_125373.1:n.1256C>T (ACTA2-AS1)
XM_011540016.1:c.809-27G>A (ACTA2)	XP_011538318.1:n.809-27G>A
NM_001141945.2:c.809-27G>A (ACTA2)	NP_001135417.1:n.809-27G>A
NM_001320855.1:c.809-27G>A (ACTA2)	NP_001307784.1:n.809-27G>A
NM_001613.3:c.809-27G>A (ACTA2)	NP_001604.1:n.809-27G>A
NM_001613.4:c.809-27G>A (ACTA2) MANE Select	NP_001604.1:n.809-27G>A