Canonical Allele Identifier: CA1926612110
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88947413C= , CM000672.2:g.88947413C= GRCh38
NC_000010.10:g.90707170C= , CM000672.1:g.90707170C= GRCh37
NC_000010.9:g.90697150C= NCBI36
NG_011541.1:g.48978G= , LRG_781:g.48978G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.130-27G= (ACTA2) ENSP00000396730.2:n.130-27G=
ENST00000458159.6:c.130-27G= (ACTA2) ENSP00000398239.2:n.130-27G=
ENST00000480297.6:n.196-27G= (ACTA2)
ENST00000482085.2:n.1584G= (ACTA2)
ENST00000224784.10:c.130-27G= (ACTA2) MANE Select ENSP00000224784.6:n.130-27G=
ENST00000371927.7:c.1254+24977C= (STAMBPL1) ENSP00000360995.3:n.1254+24977C=
ENST00000415557.1:c.130-27G= (ACTA2) ENSP00000396730.1:n.130-27G=
ENST00000458159.5:c.130-27G= (ACTA2) ENSP00000398239.1:n.130-27G=
ENST00000458208.5:c.130-27G= (ACTA2) ENSP00000402373.1:n.130-27G=
ENST00000480297.5:n.170-27G= (ACTA2)
ENST00000488967.5:n.196-27G= (ACTA2)
NM_001141945.1:c.130-27G= , LRG_781t2:c.130-27G= (ACTA2) NP_001135417.1:n.130-27G=
NM_001613.2:c.130-27G= , LRG_781t1:c.130-27G= (ACTA2) NP_001604.1:n.130-27G=
XM_011540016.1:c.130-27G= (ACTA2) XP_011538318.1:n.130-27G=
NM_001141945.2:c.130-27G= (ACTA2) NP_001135417.1:n.130-27G=
NM_001320855.1:c.130-27G= (ACTA2) NP_001307784.1:n.130-27G=
NM_001613.3:c.130-27G= (ACTA2) NP_001604.1:n.130-27G=
NM_001613.4:c.130-27G= (ACTA2) MANE Select NP_001604.1:n.130-27G=