Canonical Allele Identifier: CA2580067134

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1792083
• ClinVar RCV Id: RCV002430951

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480729_47480730dup , CM000664.2:g.47480729_47480730dup	GRCh38
NC_000002.11:g.47707868_47707869dup , CM000664.1:g.47707868_47707869dup	GRCh37
NC_000002.10:g.47561372_47561373dup	NCBI36
NG_007110.2:g.82606_82607dup , LRG_218:g.82606_82607dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2492_2493dup	ENSP00000495641.2:p.Glu832GlnfsTer10
ENST00000233146.7:c.2492_2493dup MANE Select	ENSP00000233146.2:p.Glu832GlnfsTer10
ENST00000543555.6:c.2294_2295dup	ENSP00000442697.1:p.Glu766GlnfsTer10
ENST00000644092.1:c.*792_*793dup	ENSP00000496351.1:n.*792_*793dup
ENST00000644900.1:c.345_346dup
ENST00000645339.1:c.2492_2493dup	ENSP00000496441.1:p.Glu832GlnfsTer10
ENST00000645506.1:c.2492_2493dup	ENSP00000495455.1:p.Glu832GlnfsTer10
ENST00000646415.1:c.2492_2493dup	ENSP00000495543.1:p.Glu832GlnfsTer10
ENST00000233146.6:c.2492_2493dup	ENSP00000233146.2:p.Glu832GlnfsTer10
ENST00000406134.5:c.2492_2493dup	ENSP00000384199.1:p.Glu832GlnfsTer10
ENST00000543555.5:c.2294_2295dup	ENSP00000442697.1:p.Glu766GlnfsTer10
ENST00000610696.4:c.*888_*889dup	ENSP00000483159.1:n.*888_*889dup
ENST00000613514.4:c.*1032_*1033dup	ENSP00000484137.1:n.*1032_*1033dup
ENST00000617333.3:c.*1258_*1259dup	ENSP00000482468.1:n.*1258_*1259dup
ENST00000617938.4:c.*1464_*1465dup	ENSP00000481158.1:n.*1464_*1465dup
ENST00000621359.2:c.*58_*59dup	ENSP00000481416.1:n.*58_*59dup
NM_000251.2:c.2492_2493dup , LRG_218t1:c.2492_2493dup	NP_000242.1:p.Glu832GlnfsTer10
NM_001258281.1:c.2294_2295dup	NP_001245210.1:p.Glu766GlnfsTer10
XM_005264332.2:c.2492_2493dup	XP_005264389.2:p.Glu832GlnfsTer10
XM_011532867.1:c.2492_2493dup	XP_011531169.1:p.Glu832GlnfsTer10
XR_939685.1:n.2564_2565dup
XM_005264332.4:c.2492_2493dup	XP_005264389.2:p.Glu832GlnfsTer10
XM_011532867.2:c.2492_2493dup	XP_011531169.1:p.Glu832GlnfsTer10
XR_001738747.2:n.2554_2555dup
XR_939685.2:n.2554_2555dup
NM_000251.3:c.2492_2493dup MANE Select	NP_000242.1:p.Glu832GlnfsTer10