MSH2 gene homepage

General information
Gene symbol MSH2
Gene name mutS homolog 2
Chromosome 2
Chromosomal band p21-p16.3
Imprinted Unknown
Genomic reference LRG_218
Transcript reference NM_000251.2, NM_001258281.1
Associated with diseases HNPCC1, MMRCS, MRTES
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 367
Unique public DNA variants reported 108
Individuals with public variants 367
Hidden variants 0
Date created May 20, 2020
Date last updated February 22, 2021
Version MSH2:210222

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 7325
Entrez Gene 4436
PubMed articles MSH2
OMIM - Gene 609309
OMIM - Diseases HNPCC1 (Colorectal cancer, hereditary nonpolyposis, type 1)
MMRCS (Mismatch repair cancer syndrome)
MRTES (Muir-Torre syndrome)

Active transcripts




NCBI ID     

NCBI Protein ID     

00000129 2 colon cancer, nonpolyposis type 1 (E. coli), transcript variant 1 NM_000251.2 NP_000242.1 367
00000130 2 colon cancer, nonpolyposis type 1 (E. coli), transcript variant 2 NM_001258281.1 NP_001245210.1 366

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2020-2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.