chr2:47637246:A>T Detail (hg19) (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	chr2:47,637,246-47,637,246
hg38	chr2:47,410,107-47,410,107 View the variant detail on this assembly version.

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.380A>T	NP_000242.1:p.Asn127Ile
	NM_001258281.1:c.182A>T	NP_001245210.1:p.Asn61Ile
Ensemble	ENST00000233146.7:c.380A>T	ENST00000233146.7:p.Asn127Ile
	ENST00000406134.5:c.380A>T	ENST00000406134.5:p.Asn127Ile
	ENST00000543555.6:c.182A>T	ENST00000543555.6:p.Asn61Ile
	ENST00000645506.1:c.380A>T	ENST00000645506.1:p.Asn127Ile
	ENST00000713854.1:c.380A>T	ENST00000713854.1:p.Asn127Ile
	ENST00000713860.1:c.380A>T	ENST00000713860.1:p.Asn127Ile
	ENST00000713861.1:c.380A>T	ENST00000713861.1:p.Asn127Ile
	ENST00000713919.1:c.366+1552A>T

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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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

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Triple Negative Breast Neoplasms	Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch...	BeFree	25134804	Detail
0.365	Turcot syndrome (disorder)	Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trig...	BeFree	18470917	Detail
0.144	colorectal cancer	The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (...	BeFree	22581703	Detail
0.320	Colorectal cancer, hereditary nonpolyposis, type 1	Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in ...	UNIPROT	22581703	Detail
0.002	Tumor Progression	We performed a case-control study to test the association between two polymorphi...	BeFree	16252083	Detail
0.063	colorectal carcinoma	The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (...	BeFree	22581703	Detail

Annotation

Annotations

Descrption	Source	Links
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the...	DisGeNET	Detail
Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency.	DisGeNET	Detail
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is esp...	DisGeNET	Detail
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.	DisGeNET	Detail
We performed a case-control study to test the association between two polymorphisms in the hMSH2 gen...	DisGeNET	Detail
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is esp...	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: rs17217772 dbSNP
Genome: hg19
Position: chr2:47,637,246-47,637,246
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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