Canonical Allele Identifier: CA007052

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 199676
• ClinVar RCV Id: RCV000181029 ; RCV001347117 ; RCV002415768
• dbSNP Id: rs794728029
• MyVariant Identifiers: chr10:g.90697999C>T (hg19) ; chr10:g.88938242C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88938242C>T , CM000672.2:g.88938242C>T	GRCh38
NC_000010.10:g.90697999C>T , CM000672.1:g.90697999C>T	GRCh37
NC_000010.9:g.90687979C>T	NCBI36
NG_011541.1:g.58149G>A , LRG_781:g.58149G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.809G>A (ACTA2)	ENSP00000396730.2:p.Gly270Glu
ENST00000458159.6:c.809G>A (ACTA2)	ENSP00000398239.2:p.Gly270Glu
ENST00000480297.6:n.2405G>A (ACTA2)
ENST00000224784.10:c.809G>A (ACTA2) MANE Select	ENSP00000224784.6:p.Gly270Glu
ENST00000371927.7:c.1254+15806C>T (STAMBPL1)	ENSP00000360995.3:n.1254+15806C>T
ENST00000458208.5:c.809G>A (ACTA2)	ENSP00000402373.1:p.Gly270Glu
NM_001141945.1:c.809G>A , LRG_781t2:c.809G>A (ACTA2)	NP_001135417.1:p.Gly270Glu
NM_001613.2:c.809G>A , LRG_781t1:c.809G>A (ACTA2)	NP_001604.1:p.Gly270Glu
NR_125373.1:n.1229C>T (ACTA2-AS1)
XM_011540016.1:c.809G>A (ACTA2)	XP_011538318.1:p.Gly270Glu
NM_001141945.2:c.809G>A (ACTA2)	NP_001135417.1:p.Gly270Glu
NM_001320855.1:c.809G>A (ACTA2)	NP_001307784.1:p.Gly270Glu
NM_001613.3:c.809G>A (ACTA2)	NP_001604.1:p.Gly270Glu
NM_001613.4:c.809G>A (ACTA2) MANE Select	NP_001604.1:p.Gly270Glu