ASB2 ankyrin repeat and SOCS box containing 2
Information
- Symbol
- ASB2
- Type
- protein-coding
- Description
- ankyrin repeat and SOCS box containing 2
- Entrez Gene ID
- 51676
- Genome
- hg19
- Position
- chr14:94,400,512-94,442,916
- Genome
- hg38
- Position
- chr14:93,934,166-93,976,570
- MIM
- 605759 OMIM
- HGNC
- HGNC:16012 HGNC
- Ensembl
- ENSG00000100628 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 6 |
| Uncertain significance | 0 | 96 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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0 |
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102 |
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0 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ASB-2 |
| MIM | 605759 OMIM |
| HGNC | HGNC:16012 HGNC |
| Ensembl | ENSG00000100628 Ensembl |
| AllianceGenome | HGNC:16012 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000315988.8 | hg38 | chr14 | 93,934,166 | 93,957,421 | 23,256 |
| ENST00000555019.6 | hg38 | chr14 | 93,934,166 | 93,976,570 | 42,405 |
| ENST00000315988.8 | hg19 | chr14 | 94,400,512 | 94,423,767 | 23,256 |
| ENST00000555019.6 | hg19 | chr14 | 94,400,512 | 94,442,916 | 42,405 |
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