chr2:47463101:ATGA> 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	chr2:47,690,240-47,690,243
hg38	chr2:47,463,101-47,463,104

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.1457_1460delATGA	NP_000242.1:p.Asn486ThrfsTer10
	NM_001258281.1:c.1259_1262delATGA	NP_001245210.1:p.Asn420ThrfsTer10
Ensemble	ENST00000233146.7:c.1457_1460delATGA	ENST00000233146.7:p.Asn486ThrfsTer10
	ENST00000406134.5:c.1457_1460delATGA	ENST00000406134.5:p.Asn486ThrfsTer10
	ENST00000543555.6:c.1259_1262delATGA	ENST00000543555.6:p.Asn420ThrfsTer10
	ENST00000645506.1:c.1457_1460delATGA	ENST00000645506.1:p.Asn486ThrfsTer10
	ENST00000713854.1:c.1307_1310delATGA	ENST00000713854.1:p.Asn436ThrfsTer10
	ENST00000713919.1:c.1178_1181delATGA	ENST00000713919.1:p.Asn393ThrfsTer10

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

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
0.121	Neoplastic Syndromes, Hereditary	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NA	DisGeNET	Detail
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: rs587776530 dbSNP
Genome: hg38
Position: chr2:47,463,101-47,463,104
Variant Type: snv
Reference Allele: ATGA
Alternative Allele: -

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