chr2:47414268:GGTTG>AAATTAAGA Detail (hg38) (MSH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:47,641,407-47,641,411 View the variant detail on this assembly version. |
hg38 | chr2:47,414,268-47,414,272 |
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 |
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
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
- hg38
- Position
- chr2:47,414,268-47,414,272
- Variant Type
- snv
- Reference Allele
- GGTTG
- Alternative Allele
- AAATTAAGA
Genome browser