chr2:29443613:C>T Detail (hg19) (ALK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:29,443,613-29,443,613 |
| hg38 | chr2:29,220,747-29,220,747 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_004304.4:c.3604G>A | NP_004295.2:p.Gly1202Arg |
| Ensemble | ENST00000389048.8:c.3604G>A | ENST00000389048.8:p.Gly1202Arg |
| ENST00000618119.4:c.2473G>A | ENST00000618119.4:p.Gly825Arg |
Summary
MGeND
| Clinical significance |
not provided
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
not provided
|
stomach, unspecified |
not provided
|
MGS000040
(TMGS000095) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
|
not provided
|
bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Likely pathogenic
|
2014-12-26 | no assertion criteria provided | lung adenocarcinoma |
somatic
|
Detail |
|
not provided
|
2016-03-10 | no assertion provided | Non-small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | lung cancer |
somatic
|
Detail |
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) AND Lung adenocarcinoma | ClinVar | Detail |
| NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) AND Non-small cell lung carcinoma | ClinVar | Detail |
| NM_004304.5(ALK):c.3604G>A (p.Gly1202Arg) AND Lung cancer | ClinVar | 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
- rs1057519783 dbSNP
- Genome
- hg19
- Position
- chr2:29,443,613-29,443,613
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser