Canonical Allele Identifier: CA006793

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 199682
• ClinVar RCV Id: RCV000645619 ; RCV001185029 ; RCV003147378
• dbSNP Id: rs794728034
• gnomAD v4: 10-88935336-CAG-C
• MyVariant Identifiers: chr10:g.90695094_90695095del (hg19) ; chr10:g.88935337_88935338del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935339_88935340del , CM000672.2:g.88935339_88935340del	GRCh38
NC_000010.10:g.90695096_90695097del , CM000672.1:g.90695096_90695097del	GRCh37
NC_000010.9:g.90685076_90685077del	NCBI36
NG_011541.1:g.61053_61054del , LRG_781:g.61053_61054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.1019_1020del (ACTA2)	ENSP00000396730.2:p.Ser340CysfsTer26
ENST00000458159.6:c.1019_1020del (ACTA2)	ENSP00000398239.2:p.Ser340CysfsTer26
ENST00000480297.6:n.2615_2616del (ACTA2)
ENST00000224784.10:c.1019_1020del (ACTA2) MANE Select	ENSP00000224784.6:p.Ser340CysfsTer26
ENST00000371927.7:c.1254+12903_1254+12904del (STAMBPL1)	ENSP00000360995.3:n.1254+12903_1254+12904del
ENST00000458208.5:c.1019_1020del (ACTA2)	ENSP00000402373.1:p.Ser340CysfsTer26
NM_001141945.1:c.1019_1020del , LRG_781t2:c.1019_1020del (ACTA2)	NP_001135417.1:p.Ser340CysfsTer26
NM_001613.2:c.1019_1020del , LRG_781t1:c.1019_1020del (ACTA2)	NP_001604.1:p.Ser340CysfsTer26
NR_125373.1:n.964_965del (ACTA2-AS1)
XM_011540016.1:c.1019_1020del (ACTA2)	XP_011538318.1:p.Ser340CysfsTer26
NM_001141945.2:c.1019_1020del (ACTA2)	NP_001135417.1:p.Ser340CysfsTer26
NM_001320855.1:c.1019_1020del (ACTA2)	NP_001307784.1:p.Ser340CysfsTer26
NM_001613.3:c.1019_1020del (ACTA2)	NP_001604.1:p.Ser340CysfsTer26
NM_001613.4:c.1019_1020del (ACTA2) MANE Select	NP_001604.1:p.Ser340CysfsTer26