chr2:47690225:T>G Detail (hg19) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,690,225-47,690,225
hg38 chr2:47,463,086-47,463,086 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.1442T>G NP_000242.1:p.Leu481Ter
NM_001258281.1:c.1244T>G NP_001245210.1:p.Leu415Ter
Ensemble ENST00000233146.7:c.1442T>G ENST00000233146.7:p.Leu481Ter
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 2022-04-18 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2021-07-07 criteria provided, single submitter Hereditary nonpolyposis colorectal neoplasms germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.332 Hereditary Nonpolyposis Colorectal Cancer NA CLINVAR Detail
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000251.3(MSH2):c.1442T>G (p.Leu481Ter) AND Hereditary nonpolyposis colorectal neoplasms 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
rs786203036 dbSNP
Genome
hg19
Position
chr2:47,690,225-47,690,225
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser