MSH2 mutS homolog 2

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Information
Clinical Significance
Ranking
Frequency
Disease area statistics
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Information

Symbol: MSH2
Type: protein-coding
Description: mutS homolog 2
Entrez Gene ID: 4436
Genome: hg19
Position: chr2:47,630,295-47,710,362
Genome: hg38
Position: chr2:47,403,156-47,483,223
MIM: 609309 OMIM
HGNC: HGNC:7325 HGNC
Ensembl: ENSG00000095002 Ensembl
Links: NCBI Gene Cards OncoKB

Clinical Significance

	MGeND	ClinVar
Pathogenic	122	3,162
Likely pathogenic	10	750
Benign	56	418
Likely benign	27	3,246
Conflicting classifications of pathogenicity	0	2,186
no classification for the single variant	0	4
not provided	738	20
Uncertain significance	207	4,120

Ranking

	ClinVar
	0
	1,042
	3,888
	6,186
	160

Frequency

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

EXAC_EAS

EXAC_EAS

HGVD

HGVD

TOMMO

TOMMO

Gene

Position

Disease area statistics

Locus Zoom

Variants

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Target data	:	MGeND data only
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Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	MGeND				Genome	ClinVar			CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction
Variant name	Gene	AA change	CDS	Japanese frequency	TogoVar	Entry	Origin	Type	Annotation	Genome	Entry	Origin	Annotation	CIViC evidence	DisGeNET entry	COSMIC occurrence	Prediction

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Size	Chromosome	Start	Stop	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

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Target data	:	MGeND data only
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Name	MGeND				Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry
Name	Entry	Origin	Type	Annotation	Type	Genome	Gene symbol	Chromosome	Genomic start	Genomic stop	Strand	Ref	Alt	ClinVar	Origin	Entry	CIViC evidence	DisGeNET entry

Type	ID
SYNONYM	COCA1
SYNONYM	FCC1
SYNONYM	HNPCC
SYNONYM	HNPCC1
SYNONYM	LCFS2
SYNONYM	LYNCH1
SYNONYM	MMRCS2
SYNONYM	MSH-2
SYNONYM	hMSH2
MIM	609309 OMIM
HGNC	HGNC:7325 HGNC
Ensembl	ENSG00000095002 Ensembl
AllianceGenome	HGNC:7325

Descrption	Source	Links

ID	Genome	Chromosome	Start	End	Length
ENST00000713919.1	hg38	chr2	47,403,167	47,483,221	80,055
ENST00000713860.1	hg38	chr2	47,403,168	47,448,582	45,415
ENST00000713861.1	hg38	chr2	47,403,168	47,448,582	45,415
ENST00000713854.1	hg38	chr2	47,403,130	47,483,228	80,099
ENST00000406134.5	hg38	chr2	47,403,130	47,513,234	110,105
ENST00000543555.6	hg38	chr2	47,403,067	47,483,221	80,155
ENST00000645506.1	hg38	chr2	47,403,119	47,567,156	164,038
ENST00000233146.7	hg38	chr2	47,403,156	47,483,223	80,068
ENST00000543555.6	hg19	chr2	47,630,206	47,710,360	80,155
ENST00000645506.1	hg19	chr2	47,630,258	47,794,295	164,038
ENST00000713854.1	hg19	chr2	47,630,269	47,710,367	80,099
ENST00000406134.5	hg19	chr2	47,630,269	47,740,373	110,105
ENST00000233146.7	hg19	chr2	47,630,295	47,710,362	80,068
ENST00000713919.1	hg19	chr2	47,630,306	47,710,360	80,055
ENST00000713860.1	hg19	chr2	47,630,307	47,675,721	45,415
ENST00000713861.1	hg19	chr2	47,630,307	47,675,721	45,415

Key	Value
strand	+
UniProt	TSG
start	47,630,205
Vogelstein	TSG
Gene Symbol	MSH2
Entrez GeneId	4,436
Chr Band	2p22-p21
end	47,710,366
chr	chr2
Name	mutS homolog 2 (E. coli)

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