chr2:208248486:T>C Detail (hg38) (IDH1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:209,113,210-209,113,210 View the variant detail on this assembly version. |
| hg38 | chr2:208,248,486-208,248,486 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_005896.3:c.297A>G | NP_005887.2:p.Ile99Met |
| NM_001282387.1:c.297A>G | NP_001269316.1:p.Ile99Met | |
| NM_001282386.1:c.297A>G | NP_001269315.1:p.Ile99Met |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
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
- -
- Genome
- hg38
- Position
- chr2:208,248,486-208,248,486
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 3
- East Asian Heterozygous Counts (ExAC)
- 3
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 3.4666050381326557E-4
- Chromosome Counts in All Race (ExAC)
- 121404
- Allele Counts in All Race (ExAC)
- 3
- Heterozygous Counts in All Race (ExAC)
- 3
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 2.471088267272907E-5
Genome browser