Canonical Allele Identifier: CA669669080

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 2683115
• ClinVar RCV Id: RCV003481982
• dbSNP Id: rs1188845970
• MyVariant Identifiers: chr10:g.90707038_90707040del (hg19) ; chr10:g.88947281_88947283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88947286_88947288del , CM000672.2:g.88947286_88947288del	GRCh38
NC_000010.10:g.90707043_90707045del , CM000672.1:g.90707043_90707045del	GRCh37
NC_000010.9:g.90697023_90697025del	NCBI36
NG_011541.1:g.49108_49110del , LRG_781:g.49108_49110del

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.233_235del (ACTA2)	ENSP00000396730.2:p.Ile78del
ENST00000458159.6:c.233_235del (ACTA2)	ENSP00000398239.2:p.Ile78del
ENST00000480297.6:n.299_301del (ACTA2)
ENST00000482085.2:n.1714_1716del (ACTA2)
ENST00000224784.10:c.233_235del (ACTA2) MANE Select	ENSP00000224784.6:p.Ile78del
ENST00000371927.7:c.1254+24850_1254+24852del (STAMBPL1)	ENSP00000360995.3:n.1254+24850_1254+24852del
ENST00000415557.1:c.233_235del (ACTA2)	ENSP00000396730.1:p.Ile78del
ENST00000458159.5:c.233_235del (ACTA2)	ENSP00000398239.1:p.Ile78del
ENST00000458208.5:c.233_235del (ACTA2)	ENSP00000402373.1:p.Ile78del
ENST00000480297.5:n.273_275del (ACTA2)
ENST00000488967.5:n.299_301del (ACTA2)
NM_001141945.1:c.233_235del , LRG_781t2:c.233_235del (ACTA2)	NP_001135417.1:p.Ile78del
NM_001613.2:c.233_235del , LRG_781t1:c.233_235del (ACTA2)	NP_001604.1:p.Ile78del
XM_011540016.1:c.233_235del (ACTA2)	XP_011538318.1:p.Ile78del
NM_001141945.2:c.233_235del (ACTA2)	NP_001135417.1:p.Ile78del
NM_001320855.1:c.233_235del (ACTA2)	NP_001307784.1:p.Ile78del
NM_001613.3:c.233_235del (ACTA2)	NP_001604.1:p.Ile78del
NM_001613.4:c.233_235del (ACTA2) MANE Select	NP_001604.1:p.Ile78del