chr21:40191638:A>G Detail (hg19) (ETS2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr21:40,191,638-40,191,638 |
| hg38 | chr21:38,819,714-38,819,714 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001256295.1:c.1023A>G | NP_001243224.1:p.Pro341= |
| NM_005239.5:c.1023A>G | NP_005230.1:p.Pro341= | |
| Ensemble | ENST00000360214.8:c.1023A>G | ENST00000360214.8:p.Pro341= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.430 |
| ToMMo:0.432 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.459 |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| lung non-small cell carcinoma | Paclitaxel,Cisplatin | B |
Predictive
|
Supports
|
Sensitivity/Response | Common Germline | 2 | 26893365 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Eighty SNPs in miRNA binding sites of cancer related genes selected from 18,500 miRNA:target binding... | CIViC Evidence | 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
- -
- Genome
- hg19
- Position
- chr21:40,191,638-40,191,638
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1206
- Mean of sample read depth (HGVD)
- 161.64
- Standard deviation of sample read depth (HGVD)
- 77.12
- Number of reference allele (HGVD)
- 1374
- Number of alternative allele (HGVD)
- 1036
- Allele Frequency (HGVD)
- 0.4298755186721992
- Gene Symbol (HGVD)
- ETS2
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs461155
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4317
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7236
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8508
- East Asian Allele Counts (ExAC)
- 3905
- East Asian Heterozygous Counts (ExAC)
- 2129
- East Asian Homozygous Counts (ExAC)
- 888
- East Asian Allele Frequency (ExAC)
- 0.4589797837329572
- Chromosome Counts in All Race (ExAC)
- 119838
- Allele Counts in All Race (ExAC)
- 86613
- Heterozygous Counts in All Race (ExAC)
- 21043
- Homozygous Counts in All Race (ExAC)
- 32785
- Allele Frequency in All Race (ExAC)
- 0.7227507134631753
- Variant (CIViC) (CIViC Variant)
- RS461155
- Transcript 1 (CIViC Variant)
- ENST00000360214.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/445
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