chr2:47412448:GAAA> Detail (hg38) (MSH2)

Information

Genome

Assembly Position
hg19 chr2:47,639,587-47,639,590 
hg38 chr2:47,412,448-47,412,451

HGVS

Type Transcript Protein
RefSeq NM_000251.2:c.680_683delGAAA NP_000242.1:p.Arg227LysfsTer18
NM_001258281.1:c.482_485delGAAA NP_001245210.1:p.Arg161LysfsTer18
Ensemble ENST00000233146.7:c.680_683delGAAA ENST00000233146.7:p.Arg227LysfsTer18
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
0.121 Neoplastic Syndromes, Hereditary 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
rs587782537 dbSNP
Genome
hg38
Position
chr2:47,412,448-47,412,451
Variant Type
snv
Reference Allele
GAAA
Alternative Allele
-
Genome browser