Canonical Allele Identifier: CA1139661619

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 872241
• ClinVar RCV Id: RCV001092601
• dbSNP Id: rs1845971444

Genomic Alleles

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

Transcript Alleles

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