Canonical Allele Identifier: CA377512227

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 1298493
• ClinVar RCV Id: RCV001726823
• dbSNP Id: rs2133254801
• MyVariant Identifiers: chr10:g.90701079G>C (hg19) ; chr10:g.88941322G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941322G>C , CM000672.2:g.88941322G>C	GRCh38
NC_000010.10:g.90701079G>C , CM000672.1:g.90701079G>C	GRCh37
NC_000010.9:g.90691059G>C	NCBI36
NG_011541.1:g.55069C>G , LRG_781:g.55069C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.523C>G (ACTA2)	ENSP00000396730.2:p.His175Asp
ENST00000458159.6:c.523C>G (ACTA2)	ENSP00000398239.2:p.His175Asp
ENST00000480297.6:n.589C>G (ACTA2)
ENST00000224784.10:c.523C>G (ACTA2) MANE Select	ENSP00000224784.6:p.His175Asp
ENST00000371927.7:c.1254+18886G>C (STAMBPL1)	ENSP00000360995.3:n.1254+18886G>C
ENST00000458208.5:c.523C>G (ACTA2)	ENSP00000402373.1:p.His175Asp
ENST00000480297.5:n.563C>G (ACTA2)
NM_001141945.1:c.523C>G , LRG_781t2:c.523C>G (ACTA2)	NP_001135417.1:p.His175Asp
NM_001613.2:c.523C>G , LRG_781t1:c.523C>G (ACTA2)	NP_001604.1:p.His175Asp
XM_011540016.1:c.523C>G (ACTA2)	XP_011538318.1:p.His175Asp
NM_001141945.2:c.523C>G (ACTA2)	NP_001135417.1:p.His175Asp
NM_001320855.1:c.523C>G (ACTA2)	NP_001307784.1:p.His175Asp
NM_001613.3:c.523C>G (ACTA2)	NP_001604.1:p.His175Asp
NM_001613.4:c.523C>G (ACTA2) MANE Select	NP_001604.1:p.His175Asp