chr2:47639593:AA> 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	chr2:47,639,593-47,639,594
hg38	chr2:47,412,454-47,412,455

HGVS

MSH2

Type	Transcript	Protein
RefSeq	NM_000251.2:c.686_687delAA	NP_000242.1:p.Lys229SerfsTer2
	NM_001258281.1:c.488_489delAA	NP_001245210.1:p.Lys163SerfsTer2
Ensemble	ENST00000233146.7:c.686_687delAA	ENST00000233146.7:p.Lys229SerfsTer2
	ENST00000406134.5:c.686_687delAA	ENST00000406134.5:p.Lys229SerfsTer2
	ENST00000543555.6:c.488_489delAA	ENST00000543555.6:p.Lys163SerfsTer2
	ENST00000645506.1:c.686_687delAA	ENST00000645506.1:p.Lys229SerfsTer2
	ENST00000713854.1:c.686_687delAA	ENST00000713854.1:p.Lys229SerfsTer2
	ENST00000713860.1:c.686_687delAA	ENST00000713860.1:p.Lys229SerfsTer2
	ENST00000713861.1:c.686_687delAA	ENST00000713861.1:p.Lys229SerfsTer2
	ENST00000713919.1:c.407_408delAA	ENST00000713919.1:p.Lys136SerfsTer2

Summary

MGeND

Clinical significance
Variant entry
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

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-01-10	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2023-05-01	criteria provided, single submitter	Hereditary nonpolyposis colorectal neoplasms	germline	Detail
Pathogenic	2023-07-27	criteria provided, single submitter	Lynch syndrome 1	unknown	Detail
Pathogenic	2024-02-15	criteria provided, multiple submitters, no conflicts	Hereditary cancer-predisposing syndrome	germline	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.686_687del (p.Lys229fs) AND not provided	ClinVar	Detail
NM_000251.3(MSH2):c.686_687del (p.Lys229fs) AND Hereditary nonpolyposis colorectal neoplasms	ClinVar	Detail
NM_000251.3(MSH2):c.686_687del (p.Lys229fs) AND Lynch syndrome 1	ClinVar	Detail
NM_000251.3(MSH2):c.686_687del (p.Lys229fs) AND Hereditary cancer-predisposing syndrome	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: rs63749897 dbSNP
Genome: hg19
Position: chr2:47,639,593-47,639,594
Variant Type: snv
Reference Allele: AA
Alternative Allele: -

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