Canonical Allele Identifier: CA1926611791
Community Standard Title: NM_001613.4(ACTA2):c.226G= (p.Gly76=)
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88947290C= , CM000672.2:g.88947290C= GRCh38
NC_000010.10:g.90707047C= , CM000672.1:g.90707047C= GRCh37
NC_000010.9:g.90697027C= NCBI36
NG_011541.1:g.49101G= , LRG_781:g.49101G=

Transcript Alleles

HGVS Amino-acid Change
NM_001613.4:c.226G= (ACTA2) MANE Select NP_001604.1:p.Gly76=
ENST00000224784.10:c.226G= (ACTA2) MANE Select ENSP00000224784.6:p.Gly76=
NM_001141945.1:c.226G= , LRG_781t2:c.226G= (ACTA2) NP_001135417.1:p.Gly76=
NM_001141945.2:c.226G= (ACTA2) NP_001135417.1:p.Gly76=
NM_001320855.1:c.226G= (ACTA2) NP_001307784.1:p.Gly76=
NM_001613.2:c.226G= , LRG_781t1:c.226G= (ACTA2) NP_001604.1:p.Gly76=
NM_001613.3:c.226G= (ACTA2) NP_001604.1:p.Gly76=
ENST00000371927.7:c.1254+24854C= (STAMBPL1) ENSP00000360995.3:n.1254+24854C=
ENST00000415557.1:c.226G= (ACTA2) ENSP00000396730.1:p.Gly76=
ENST00000415557.2:c.226G= (ACTA2) ENSP00000396730.2:p.Gly76=
ENST00000458159.5:c.226G= (ACTA2) ENSP00000398239.1:p.Gly76=
ENST00000458159.6:c.226G= (ACTA2) ENSP00000398239.2:p.Gly76=
ENST00000458208.5:c.226G= (ACTA2) ENSP00000402373.1:p.Gly76=
ENST00000480297.5:n.266G= (ACTA2)
ENST00000480297.6:n.292G= (ACTA2)
ENST00000482085.2:n.1707G= (ACTA2)
ENST00000488967.5:n.292G= (ACTA2)
XM_011540016.1:c.226G= (ACTA2) XP_011538318.1:p.Gly76=