Canonical Allele Identifier: CA595185107
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1185368772

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88938012G>A , CM000672.2:g.88938012G>A GRCh38
NC_000010.10:g.90697769G>A , CM000672.1:g.90697769G>A GRCh37
NC_000010.9:g.90687749G>A NCBI36
NG_011541.1:g.58379C>T , LRG_781:g.58379C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.990+49C>T (ACTA2) ENSP00000396730.2:n.990+49C>T
ENST00000458159.6:c.990+49C>T (ACTA2) ENSP00000398239.2:n.990+49C>T
ENST00000480297.6:n.2586+49C>T (ACTA2)
ENST00000224784.10:c.990+49C>T (ACTA2) MANE Select ENSP00000224784.6:n.990+49C>T
ENST00000371927.7:c.1254+15576G>A (STAMBPL1) ENSP00000360995.3:n.1254+15576G>A
ENST00000458208.5:c.990+49C>T (ACTA2) ENSP00000402373.1:n.990+49C>T
NM_001141945.1:c.990+49C>T , LRG_781t2:c.990+49C>T (ACTA2) NP_001135417.1:n.990+49C>T
NM_001613.2:c.990+49C>T , LRG_781t1:c.990+49C>T (ACTA2) NP_001604.1:n.990+49C>T
NR_125373.1:n.1199-200G>A (ACTA2-AS1)
XM_011540016.1:c.990+49C>T (ACTA2) XP_011538318.1:n.990+49C>T
NM_001141945.2:c.990+49C>T (ACTA2) NP_001135417.1:n.990+49C>T
NM_001320855.1:c.990+49C>T (ACTA2) NP_001307784.1:n.990+49C>T
NM_001613.3:c.990+49C>T (ACTA2) NP_001604.1:n.990+49C>T
NM_001613.4:c.990+49C>T (ACTA2) MANE Select NP_001604.1:n.990+49C>T