chr2:29192774:> Detail (hg38) (ALK)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:29,415,640-30,144,452 |
| hg38 | chr2:29,192,774-29,921,586 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Crizotinib | C |
Predictive
|
Supports
|
Sensitivity/Response |
N/A
|
4 | 26444240 | Detail |
| mucosal melanoma | Entrectinib | C |
Predictive
|
Does Not Support
|
Sensitivity/Response | 4 | 29054983 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Expression of an alternative ALK transcript (ATI), encompassing exons 20–29 preceded by ~400 base pa... | CIViC Evidence | Detail |
| ALK expression was analyzed in 45 melanoma patient-derived xenografts (PDXs), with 11/45 showing ALK... | 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
- hg38
- Position
- chr2:29,192,774-29,921,586
- Variant Type
- snv
- Variant (CIViC) (CIViC Variant)
- ALTERNATIVE TRANSCRIPT (ATI)
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/839
- Summary (CIViC Variant)
- This novel ALK transcript (alternative isoform) initiates from a de novo alternative transcription initiation (ATI) site in ALK intron 19.
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