ALKBH2 alkB homolog 2, alpha-ketoglutarate dependent dioxygenase
Information
- Symbol
- ALKBH2
- Type
- protein-coding
- Description
- alkB homolog 2, alpha-ketoglutarate dependent dioxygenase
- Entrez Gene ID
- 121642
- Genome
- hg19
- Position
- chr12:109,525,994-109,531,277
- Genome
- hg38
- Position
- chr12:109,088,189-109,093,472
- MIM
- 610602 OMIM
- HGNC
- HGNC:32487 HGNC
- Ensembl
- ENSG00000189046 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 24 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
28 |
 |
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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| Search word | : | |
| 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 | ABH2 |
| MIM | 610602 OMIM |
| HGNC | HGNC:32487 HGNC |
| Ensembl | ENSG00000189046 Ensembl |
| AllianceGenome | HGNC:32487 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000440112.2 | hg38 | chr12 | 109,088,222 | 109,092,789 | 4,568 |
| ENST00000429722.3 | hg38 | chr12 | 109,088,189 | 109,093,472 | 5,284 |
| ENST00000343075.7 | hg38 | chr12 | 109,088,189 | 109,093,472 | 5,284 |
| ENST00000619381.4 | hg38 | chr12 | 109,088,188 | 109,093,488 | 5,301 |
| ENST00000619381.4 | hg19 | chr12 | 109,525,993 | 109,531,293 | 5,301 |
| ENST00000343075.7 | hg19 | chr12 | 109,525,994 | 109,531,277 | 5,284 |
| ENST00000429722.3 | hg19 | chr12 | 109,525,994 | 109,531,277 | 5,284 |
| ENST00000440112.2 | hg19 | chr12 | 109,526,027 | 109,530,594 | 4,568 |
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