chr2:47471047:G> Detail (hg38) (MSH2)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

Assembly	Position
hg19	chr2:47,698,186-47,698,186
hg38	chr2:47,471,047-47,471,047

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1744delG	NP_000242.1:p.Val582SerfsTer8
	NM_001258281.1:c.1546delG	NP_001245210.1:p.Val516SerfsTer8
Ensemble	ENST00000233146.7:c.1744delG	ENST00000233146.7:p.Val582SerfsTer8
	ENST00000406134.5:c.1744delG	ENST00000406134.5:p.Val582SerfsTer8
	ENST00000543555.6:c.1546delG	ENST00000543555.6:p.Val516SerfsTer8
	ENST00000645506.1:c.1744delG	ENST00000645506.1:p.Val582SerfsTer8
	ENST00000713854.1:c.1594delG	ENST00000713854.1:p.Val532SerfsTer8
	ENST00000713919.1:c.1465delG	ENST00000713919.1:p.Val489SerfsTer8

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	2
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

MSH2

Type	Database	ID	Link
Gene	MIM	609309	OMIM
	HGNC	7325	HGNC
	Ensembl	ENSG00000095002	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		colorectal cancer, hereditary nonpolyposis	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University
Pathogenic		colorectal cancer, hereditary nonpolyposis	germline	MGS000001 (TMGS000138)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2013-12-31	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-08-03	criteria provided, single submitter	Lynch syndrome 1	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000251.3(MSH2):c.1744del (p.Val582fs) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.1744del (p.Val582fs) AND Lynch syndrome 1	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs587779964 dbSNP
Genome: hg38
Position: chr2:47,471,047-47,471,047
Variant Type: snv
Reference Allele: G
Alternative Allele: -

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