Canonical Allele Identifier: CA2573051963

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1332584
• ClinVar RCV Id: RCV001805630
• dbSNP Id: rs2104405937

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478426_47478427delinsT , CM000664.2:g.47478426_47478427delinsT	GRCh38
NC_000002.11:g.47705565_47705566delinsT , CM000664.1:g.47705565_47705566delinsT	GRCh37
NC_000002.10:g.47559069_47559070delinsT	NCBI36
NG_007110.2:g.80303_80304delinsT , LRG_218:g.80303_80304delinsT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2365_2366delinsT	ENSP00000495641.2:p.Ala789SerfsTer23
ENST00000233146.7:c.2365_2366delinsT MANE Select	ENSP00000233146.2:p.Ala789SerfsTer23
ENST00000543555.6:c.2167_2168delinsT	ENSP00000442697.1:p.Ala723SerfsTer23
ENST00000644092.1:c.*665_*666delinsT	ENSP00000496351.1:n.*665_*666delinsT
ENST00000644900.1:c.218_219delinsT
ENST00000645339.1:c.2365_2366delinsT	ENSP00000496441.1:p.Ala789SerfsTer23
ENST00000645506.1:c.2365_2366delinsT	ENSP00000495455.1:p.Ala789SerfsTer23
ENST00000646415.1:c.2365_2366delinsT	ENSP00000495543.1:p.Ala789SerfsTer23
ENST00000233146.6:c.2365_2366delinsT	ENSP00000233146.2:p.Ala789SerfsTer23
ENST00000406134.5:c.2365_2366delinsT	ENSP00000384199.1:p.Ala789SerfsTer23
ENST00000543555.5:c.2167_2168delinsT	ENSP00000442697.1:p.Ala723SerfsTer23
ENST00000610696.4:c.*761_*762delinsT	ENSP00000483159.1:n.*761_*762delinsT
ENST00000613514.4:c.*905_*906delinsT	ENSP00000484137.1:n.*905_*906delinsT
ENST00000617333.3:c.*1131_*1132delinsT	ENSP00000482468.1:n.*1131_*1132delinsT
ENST00000617938.4:c.*1337_*1338delinsT	ENSP00000481158.1:n.*1337_*1338delinsT
ENST00000621359.2:c.2364_2365delinsT	ENSP00000481416.1:p.Pro789LeufsTer9
NM_000251.2:c.2365_2366delinsT , LRG_218t1:c.2365_2366delinsT	NP_000242.1:p.Ala789SerfsTer23
NM_001258281.1:c.2167_2168delinsT	NP_001245210.1:p.Ala723SerfsTer23
XM_005264332.2:c.2365_2366delinsT	XP_005264389.2:p.Ala789SerfsTer23
XM_011532867.1:c.2365_2366delinsT	XP_011531169.1:p.Ala789SerfsTer23
XR_939685.1:n.2437_2438delinsT
XM_005264332.4:c.2365_2366delinsT	XP_005264389.2:p.Ala789SerfsTer23
XM_011532867.2:c.2365_2366delinsT	XP_011531169.1:p.Ala789SerfsTer23
XR_001738747.2:n.2427_2428delinsT
XR_939685.2:n.2427_2428delinsT
NM_000251.3:c.2365_2366delinsT MANE Select	NP_000242.1:p.Ala789SerfsTer23