chr2:47702320:ATGC> Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,702,320-47,702,323
hg38 chr2:47,475,181-47,475,184 

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1916_1919delATGC NP_000242.1:p.His639LeufsTer45
NM_001258281.1:c.1718_1721delATGC NP_001245210.1:p.His573LeufsTer45
Ensemble ENST00000233146.7:c.1916_1919delATGC ENST00000233146.7:p.His639LeufsTer45
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
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 2014-09-08 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1916_1919del (p.His639fs) AND not provided 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
rs730881776 dbSNP
Genome
hg19
Position
chr2:47,702,320-47,702,323
Variant Type
snv
Reference Allele
ATGC
Alternative Allele
-
Genome browser