chr2:47410181:A> Detail (hg38) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,637,320-47,637,320 
hg38 chr2:47,410,181-47,410,181

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.454delA NP_000242.1:p.Met152CysfsTer22
NM_001258281.1:c.256delA NP_001245210.1:p.Met86CysfsTer22
Ensemble ENST00000233146.7:c.454delA ENST00000233146.7:p.Met152CysfsTer22
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 2003-01-01 no assertion criteria provided Mismatch repair cancer syndrome 2 germline Detail
Pathogenic 2013-09-05 reviewed by expert panel Lynch syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.332 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
0.365 Turcot syndrome (disorder) NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.454del (p.Met152fs) AND Mismatch repair cancer syndrome 2 ClinVar Detail
NM_000251.3(MSH2):c.454del (p.Met152fs) AND Lynch syndrome ClinVar 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
rs63751449 dbSNP
Genome
hg38
Position
chr2:47,410,181-47,410,181
Variant Type
snv
Reference Allele
A
Alternative Allele
-
Genome browser