Canonical Allele Identifier: CA211327020

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 680529
• ClinVar RCV Id: RCV000840327
• dbSNP Id: rs372619604
• gnomAD v2: 10-90706753-G-GT
• gnomAD v3: 10-88946996-G-GT
• gnomAD v4: 10-88946996-G-GT
• MyVariant Identifiers: chr10:g.90706753_90706754insT (hg19) ; chr10:g.88946996_88946997insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88947002dup , CM000672.2:g.88947002dup	GRCh38
NC_000010.10:g.90706759dup , CM000672.1:g.90706759dup	GRCh37
NC_000010.9:g.90696739dup	NCBI36
NG_011541.1:g.49394dup , LRG_781:g.49394dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.258+261dup (ACTA2)	ENSP00000396730.2:n.258+261dup
ENST00000458159.6:c.258+261dup (ACTA2)	ENSP00000398239.2:n.258+261dup
ENST00000480297.6:n.324+261dup (ACTA2)
ENST00000482085.2:n.1739+261dup (ACTA2)
ENST00000224784.10:c.258+261dup (ACTA2) MANE Select	ENSP00000224784.6:n.258+261dup
ENST00000371927.7:c.1254+24566dup (STAMBPL1)	ENSP00000360995.3:n.1254+24566dup
ENST00000415557.1:c.258+261dup (ACTA2)	ENSP00000396730.1:n.258+261dup
ENST00000458159.5:c.258+261dup (ACTA2)	ENSP00000398239.1:n.258+261dup
ENST00000458208.5:c.258+261dup (ACTA2)	ENSP00000402373.1:n.258+261dup
ENST00000480297.5:n.298+261dup (ACTA2)
ENST00000488967.5:n.585dup (ACTA2)
NM_001141945.1:c.258+261dup , LRG_781t2:c.258+261dup (ACTA2)	NP_001135417.1:n.258+261dup
NM_001613.2:c.258+261dup , LRG_781t1:c.258+261dup (ACTA2)	NP_001604.1:n.258+261dup
XM_011540016.1:c.258+261dup (ACTA2)	XP_011538318.1:n.258+261dup
NM_001141945.2:c.258+261dup (ACTA2)	NP_001135417.1:n.258+261dup
NM_001320855.1:c.258+261dup (ACTA2)	NP_001307784.1:n.258+261dup
NM_001613.3:c.258+261dup (ACTA2)	NP_001604.1:n.258+261dup
NM_001613.4:c.258+261dup (ACTA2) MANE Select	NP_001604.1:n.258+261dup