Canonical Allele Identifier: CA594940080

Gene: ACTA2 STAMBPL1

Linked Data

• dbSNP Id: rs1192349523
• gnomAD v2: 10-90701041-G-GT
• gnomAD v3: 10-88941284-G-GT
• gnomAD v4: 10-88941284-G-GT
• MyVariant Identifiers: chr10:g.90701041_90701042insT (hg19) ; chr10:g.88941284_88941285insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941284_88941285insT , CM000672.2:g.88941284_88941285insT	GRCh38
NC_000010.10:g.90701041_90701042insT , CM000672.1:g.90701041_90701042insT	GRCh37
NC_000010.9:g.90691021_90691022insT	NCBI36
NG_011541.1:g.55106_55107insA , LRG_781:g.55106_55107insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.560_561insA (ACTA2)	ENSP00000396730.2:p.Thr188HisfsTer2
ENST00000458159.6:c.560_561insA (ACTA2)	ENSP00000398239.2:p.Thr188HisfsTer2
ENST00000480297.6:n.626_627insA (ACTA2)
ENST00000224784.10:c.560_561insA (ACTA2) MANE Select	ENSP00000224784.6:p.Thr188HisfsTer2
ENST00000371927.7:c.1254+18848_1254+18849insT (STAMBPL1)	ENSP00000360995.3:n.1254+18848_1254+18849insT
ENST00000458208.5:c.560_561insA (ACTA2)	ENSP00000402373.1:p.Thr188HisfsTer2
ENST00000480297.5:n.600_601insA (ACTA2)
NM_001141945.1:c.560_561insA , LRG_781t2:c.560_561insA (ACTA2)	NP_001135417.1:p.Thr188HisfsTer2
NM_001613.2:c.560_561insA , LRG_781t1:c.560_561insA (ACTA2)	NP_001604.1:p.Thr188HisfsTer2
XM_011540016.1:c.560_561insA (ACTA2)	XP_011538318.1:p.Thr188HisfsTer2
NM_001141945.2:c.560_561insA (ACTA2)	NP_001135417.1:p.Thr188HisfsTer2
NM_001320855.1:c.560_561insA (ACTA2)	NP_001307784.1:p.Thr188HisfsTer2
NM_001613.3:c.560_561insA (ACTA2)	NP_001604.1:p.Thr188HisfsTer2
NM_001613.4:c.560_561insA (ACTA2) MANE Select	NP_001604.1:p.Thr188HisfsTer2