Canonical Allele Identifier: CA211328433

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 2899248
• ClinVar RCV Id: RCV003634020
• dbSNP Id: rs138562012
• gnomAD v2: 10-90708580-A-T
• gnomAD v3: 10-88948823-A-T
• gnomAD v4: 10-88948823-A-T
• MyVariant Identifiers: chr10:g.90708580A>T (hg19) ; chr10:g.88948823A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88948823A>T , CM000672.2:g.88948823A>T	GRCh38
NC_000010.10:g.90708580A>T , CM000672.1:g.90708580A>T	GRCh37
NC_000010.9:g.90698560A>T	NCBI36
NG_011541.1:g.47568T>A , LRG_781:g.47568T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.108T>A (ACTA2)	ENSP00000396730.2:p.Ile36=
ENST00000458159.6:c.108T>A (ACTA2)	ENSP00000398239.2:p.Ile36=
ENST00000480297.6:n.174T>A (ACTA2)
ENST00000482085.2:n.174T>A (ACTA2)
ENST00000224784.10:c.108T>A (ACTA2) MANE Select	ENSP00000224784.6:p.Ile36=
ENST00000371927.7:c.1255-24359A>T (STAMBPL1)	ENSP00000360995.3:n.1255-24359A>T
ENST00000415557.1:c.108T>A (ACTA2)	ENSP00000396730.1:p.Ile36=
ENST00000458159.5:c.108T>A (ACTA2)	ENSP00000398239.1:p.Ile36=
ENST00000458208.5:c.108T>A (ACTA2)	ENSP00000402373.1:p.Ile36=
ENST00000480297.5:n.148T>A (ACTA2)
ENST00000482085.1:n.174T>A (ACTA2)
ENST00000488967.5:n.174T>A (ACTA2)
NM_001141945.1:c.108T>A , LRG_781t2:c.108T>A (ACTA2)	NP_001135417.1:p.Ile36=
NM_001613.2:c.108T>A , LRG_781t1:c.108T>A (ACTA2)	NP_001604.1:p.Ile36=
XM_011540016.1:c.108T>A (ACTA2)	XP_011538318.1:p.Ile36=
NM_001141945.2:c.108T>A (ACTA2)	NP_001135417.1:p.Ile36=
NM_001320855.1:c.108T>A (ACTA2)	NP_001307784.1:p.Ile36=
NM_001613.3:c.108T>A (ACTA2)	NP_001604.1:p.Ile36=
NM_001613.4:c.108T>A (ACTA2) MANE Select	NP_001604.1:p.Ile36=