Canonical Allele Identifier: CA2580067374
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108540
ClinVar RCV Id: RCV003017672

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403401_47403402delinsCC , CM000664.2:g.47403401_47403402delinsCC GRCh38
NC_000002.11:g.47630540_47630541delinsCC , CM000664.1:g.47630540_47630541delinsCC GRCh37
NC_000002.10:g.47484044_47484045delinsCC NCBI36
NG_007110.2:g.5278_5279delinsCC , LRG_218:g.5278_5279delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.210_211delinsCC ENSP00000495641.2:p.Gly71Arg
ENST00000233146.7:c.210_211delinsCC MANE Select ENSP00000233146.2:p.Gly71Arg
ENST00000543555.6:c.12_13delinsCC ENSP00000442697.1:p.Gly5Arg
ENST00000644092.1:c.210_211delinsCC ENSP00000496351.1:p.Gly71Arg
ENST00000645339.1:c.210_211delinsCC ENSP00000496441.1:p.Gly71Arg
ENST00000645506.1:c.210_211delinsCC ENSP00000495455.1:p.Gly71Arg
ENST00000646415.1:c.210_211delinsCC ENSP00000495543.1:p.Gly71Arg
ENST00000233146.6:c.210_211delinsCC ENSP00000233146.2:p.Gly71Arg
ENST00000406134.5:c.210_211delinsCC ENSP00000384199.1:p.Gly71Arg
ENST00000454849.5:c.12_13delinsCC ENSP00000411482.1:p.Gly5Arg
ENST00000543555.5:c.12_13delinsCC ENSP00000442697.1:p.Gly5Arg
ENST00000610696.4:c.210_211delinsCC ENSP00000483159.1:p.Gly71Arg
ENST00000613514.4:c.210_211delinsCC ENSP00000484137.1:p.Gly71Arg
ENST00000617333.3:c.210_211delinsCC ENSP00000482468.1:p.Gly71Arg
ENST00000617938.4:c.210_211delinsCC ENSP00000481158.1:p.Gly71Arg
ENST00000621359.2:c.210_211delinsCC ENSP00000481416.1:p.Gly71Arg
NM_000251.2:c.210_211delinsCC , LRG_218t1:c.210_211delinsCC NP_000242.1:p.Gly71Arg
NM_001258281.1:c.12_13delinsCC NP_001245210.1:p.Gly5Arg
XM_005264332.2:c.210_211delinsCC XP_005264389.2:p.Gly71Arg
XM_011532867.1:c.210_211delinsCC XP_011531169.1:p.Gly71Arg
XR_939685.1:n.282_283delinsCC
XM_005264332.4:c.210_211delinsCC XP_005264389.2:p.Gly71Arg
XM_011532867.2:c.210_211delinsCC XP_011531169.1:p.Gly71Arg
XR_001738747.2:n.272_273delinsCC
XR_939685.2:n.272_273delinsCC
NM_000251.3:c.210_211delinsCC MANE Select NP_000242.1:p.Gly71Arg