Canonical Allele Identifier: CA352096

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 222479
• ClinVar RCV Id: RCV000208504
• dbSNP Id: rs869025351
• MyVariant Identifiers: chr10:g.90707131C>A (hg19) ; chr10:g.88947374C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88947374C>A , CM000672.2:g.88947374C>A	GRCh38
NC_000010.10:g.90707131C>A , CM000672.1:g.90707131C>A	GRCh37
NC_000010.9:g.90697111C>A	NCBI36
NG_011541.1:g.49017G>T , LRG_781:g.49017G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.142G>T (ACTA2)	ENSP00000396730.2:p.Gly48Ter
ENST00000458159.6:c.142G>T (ACTA2)	ENSP00000398239.2:p.Gly48Ter
ENST00000480297.6:n.208G>T (ACTA2)
ENST00000482085.2:n.1623G>T (ACTA2)
ENST00000224784.10:c.142G>T (ACTA2) MANE Select	ENSP00000224784.6:p.Gly48Ter
ENST00000371927.7:c.1254+24938C>A (STAMBPL1)	ENSP00000360995.3:n.1254+24938C>A
ENST00000415557.1:c.142G>T (ACTA2)	ENSP00000396730.1:p.Gly48Ter
ENST00000458159.5:c.142G>T (ACTA2)	ENSP00000398239.1:p.Gly48Ter
ENST00000458208.5:c.142G>T (ACTA2)	ENSP00000402373.1:p.Gly48Ter
ENST00000480297.5:n.182G>T (ACTA2)
ENST00000488967.5:n.208G>T (ACTA2)
NM_001141945.1:c.142G>T , LRG_781t2:c.142G>T (ACTA2)	NP_001135417.1:p.Gly48Ter
NM_001613.2:c.142G>T , LRG_781t1:c.142G>T (ACTA2)	NP_001604.1:p.Gly48Ter
XM_011540016.1:c.142G>T (ACTA2)	XP_011538318.1:p.Gly48Ter
NM_001141945.2:c.142G>T (ACTA2)	NP_001135417.1:p.Gly48Ter
NM_001320855.1:c.142G>T (ACTA2)	NP_001307784.1:p.Gly48Ter
NM_001613.3:c.142G>T (ACTA2)	NP_001604.1:p.Gly48Ter
NM_001613.4:c.142G>T (ACTA2) MANE Select	NP_001604.1:p.Gly48Ter