chr2:47641407:GGTTG>AAATTAAGA Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,641,407-47,641,411
hg38 chr2:47,414,268-47,414,272 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.793-1_796delinsAAATTAAGA NP_000242.1:p.Val265LysfsTer11
NM_001258281.1:c.595-1_598delinsAAATTAAGA NP_001245210.1:p.Val199LysfsTer11
Ensemble ENST00000233146.7:c.793-1_796delinsAAATTAAGA ENST00000233146.7:p.Val265LysfsTer11
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
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
0.320 Colorectal cancer, hereditary nonpolyposis, type 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs786204320 dbSNP
Genome
hg19
Position
chr2:47,641,407-47,641,411
Variant Type
snv
Reference Allele
GGTTG
Alternative Allele
AAATTAAGA
Genome browser