MSH2 gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

MSH2 (mutS homolog 2)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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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

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
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

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