chr2:47708009:AG> Detail (hg19) (MSH2)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr2:47,708,009-47,708,010
hg38	chr2:47,480,870-47,480,871

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_001258281.1:c.2435_2436delAG	NP_001245210.1:p.Glu812AlafsTer3
	NM_000251.2:c.2633_2634delAG	NP_000242.1:p.Glu878AlafsTer3
Ensemble	ENST00000543555.6:c.2435_2436delAG	ENST00000543555.6:p.Glu812AlafsTer3
	ENST00000406134.5:c.2633_2634delAG	ENST00000406134.5:p.Asn879ProfsTer40
	ENST00000233146.7:c.2633_2634delAG	ENST00000233146.7:p.Glu878AlafsTer3
	ENST00000645506.1:c.2633_2634delAG	ENST00000645506.1:p.Asn879ProfsTer53
	ENST00000713854.1:c.2483_2484delAG	ENST00000713854.1:p.Glu828AlafsTer3
	ENST00000713919.1:c.2354_2355delAG	ENST00000713919.1:p.Glu785AlafsTer3

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
Show details

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	2021/03/19	Colorectal	germline	MGS000050 (TMGS000114)	Yukihide Momozawa Koichi Matsuda	RIKEN The University of Tokyo
Pathogenic		colorectal cancer, hereditary nonpolyposis	germline	MGS000082 (TMGS000165)	Kenjiro Kosaki Kenjiro Kosaki	Keio University Mutation View

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.332	Hereditary Nonpolyposis Colorectal Cancer	NA	CLINVAR		Detail
0.320	Colorectal cancer, hereditary nonpolyposis, type 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	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: rs63751618 dbSNP
Genome: hg19
Position: chr2:47,708,009-47,708,010
Variant Type: snv
Reference Allele: AG
Alternative Allele: -

Genome browser