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MSH2

Basic information

Official gene symbol
mutS homolog 2
Conventional gene symbol
COCA1, FCC1, HNPCC1, LCFS2, hMSH2
Classification
Tumor suppressor gene
Official gene ID
4436(Refseq)
4436 (KEGG)
Transcript ID
NM_000251
Functional classification
Genome maintenance
Signaling pathway
Core DNA Damage Response
Chromosomal location
2p21-p16.3 (chr2:47630331..47710088)
Protein length
934

Chromosome ideogram

Frequency of somatic alterationsTumor type

Base substitutions, insertions, and deletions

Copy number alterations

Distribution of tumor mutation burdenTMB

List of driver somatic mutations

Genomic Coordinates (GRCh37/hg19) Reference Variant Exon Amino Acid change Coding DNA change COSMIC (v92) Classification No. of Samples
chr2:47641422 ACTGT A 5 / 16 p.S271fs c.811_814delTCTG   Tier2 1 / 59
chr2:47656969 C T 7 / 16 p.R389* c.1165C>T COSV51877675 Tier2 2 / 59
chr2:47657020 C T 7 / 16 p.R406* c.1216C>T COSV51881634 Tier2 1 / 59
chr2:47657041 C CAACTACCT 7 / 16 p.V417fs c.1240_1247dupCTACCTAA   Tier2 1 / 59
chr2:47690182 G T 9 / 16 p.E467* c.1399G>T   Tier2 1 / 59
chr2:47690230 G T 9 / 16 p.E483* c.1447G>T COSV51875855 Tier2 1 / 59
chr2:47693838 C T 10 / 16 p.Q518* c.1552C>T   Tier2 1 / 59
chr2:47698180 G T 11 / 16 p.E580* c.1738G>T COSV51876952 Tier2 3 / 59
chr2:47702265 C T 12 / 16 p.R621* c.1861C>T COSV51878201 Tier2 1 / 59
chr2:47703538 C T 13 / 16 p.R680* c.2038C>T COSV51875657 Tier2 1 / 59
chr2:47703631 C T 13 / 16 p.R711* c.2131C>T COSV51877754 Tier2 1 / 59
chr2:47705507 C A 14 / 16 p.Y769* c.2307C>A   Tier2 1 / 59
chr2:47707965 T G 15 / 16 p.Y863* c.2589T>G   Tier2 1 / 59