Canonical Allele Identifier: CA006793
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs794728034
gnomAD v4: 10-88935336-CAG-C
MyVariant Identifiers: chr10:g.90695094_90695095del (hg19) chr10:g.88935337_88935338del (hg38)
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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+12904...
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
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