Canonical Allele Identifier: CA915943826

Gene: MSH2

Linked Data

• ClinVar Variation Id: 820261
• ClinVar RCV Id: RCV001013547 ; RCV003455078
• dbSNP Id: rs1573567022

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475164_47475165del , CM000664.2:g.47475164_47475165del	GRCh38
NC_000002.11:g.47702303_47702304del , CM000664.1:g.47702303_47702304del	GRCh37
NC_000002.10:g.47555807_47555808del	NCBI36
NG_007110.2:g.77041_77042del , LRG_218:g.77041_77042del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1899_1900del	ENSP00000495641.2:p.Leu634LysfsTer9
ENST00000233146.7:c.1899_1900del MANE Select	ENSP00000233146.2:p.Leu634LysfsTer9
ENST00000543555.6:c.1701_1702del	ENSP00000442697.1:p.Leu568LysfsTer9
ENST00000644092.1:c.*199_*200del	ENSP00000496351.1:n.*199_*200del
ENST00000645339.1:c.1899_1900del	ENSP00000496441.1:p.Leu634LysfsTer9
ENST00000645506.1:c.1899_1900del	ENSP00000495455.1:p.Leu634LysfsTer9
ENST00000646415.1:c.1899_1900del	ENSP00000495543.1:p.Leu634LysfsTer9
ENST00000233146.6:c.1899_1900del	ENSP00000233146.2:p.Leu634LysfsTer9
ENST00000406134.5:c.1899_1900del	ENSP00000384199.1:p.Leu634LysfsTer9
ENST00000543555.5:c.1701_1702del	ENSP00000442697.1:p.Leu568LysfsTer9
ENST00000610696.4:c.*295_*296del	ENSP00000483159.1:n.*295_*296del
ENST00000613514.4:c.*439_*440del	ENSP00000484137.1:n.*439_*440del
ENST00000617333.3:c.*665_*666del	ENSP00000482468.1:n.*665_*666del
ENST00000617938.4:c.*871_*872del	ENSP00000481158.1:n.*871_*872del
ENST00000621359.2:c.1899_1900del	ENSP00000481416.1:p.Leu634LysfsTer9
NM_000251.2:c.1899_1900del , LRG_218t1:c.1899_1900del	NP_000242.1:p.Leu634LysfsTer9
NM_001258281.1:c.1701_1702del	NP_001245210.1:p.Leu568LysfsTer9
XM_005264332.2:c.1899_1900del	XP_005264389.2:p.Leu634LysfsTer9
XM_011532867.1:c.1899_1900del	XP_011531169.1:p.Leu634LysfsTer9
XR_939685.1:n.1971_1972del
XM_005264332.4:c.1899_1900del	XP_005264389.2:p.Leu634LysfsTer9
XM_011532867.2:c.1899_1900del	XP_011531169.1:p.Leu634LysfsTer9
XR_001738747.2:n.1961_1962del
XR_939685.2:n.1961_1962del
NM_000251.3:c.1899_1900del MANE Select	NP_000242.1:p.Leu634LysfsTer9