Canonical Allele Identifier: CA2832561766
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88947387dup , CM000672.2:g.88947387dup GRCh38
NC_000010.10:g.90707144dup , CM000672.1:g.90707144dup GRCh37
NC_000010.9:g.90697124dup NCBI36
NG_011541.1:g.49008dup , LRG_781:g.49008dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.133dup (ACTA2)
ENST00000458159.6:c.133dup (ACTA2)
ENST00000480297.6:n.199dup (ACTA2)
ENST00000482085.2:n.1614dup (ACTA2)
ENST00000224784.10:c.133dup (ACTA2)
ENST00000371927.7:c.1254+24951dup (STAMBPL1) ENSP00000360995.3:n.1254+24951dup
ENST00000415557.1:c.133dup (ACTA2)
ENST00000458159.5:c.133dup (ACTA2)
ENST00000458208.5:c.133dup (ACTA2)
ENST00000480297.5:n.173dup (ACTA2)
ENST00000488967.5:n.199dup (ACTA2)
NM_001141945.1:c.133dup , LRG_781t2:c.133dup (ACTA2)
NM_001613.2:c.133dup , LRG_781t1:c.133dup (ACTA2)
XM_011540016.1:c.133dup (ACTA2)
NM_001141945.2:c.133dup (ACTA2)
NM_001320855.1:c.133dup (ACTA2)
NM_001613.3:c.133dup (ACTA2)
NM_001613.4:c.133dup (ACTA2)