EGLN2 egl-9 family hypoxia inducible factor 2
Information
- Symbol
- EGLN2
- Type
- protein-coding
- Description
- egl-9 family hypoxia inducible factor 2
- Entrez Gene ID
- 112398
- Genome
- hg19
- Position
- chr19:41,305,450-41,314,338
- Genome
- hg38
- Position
- chr19:40,799,545-40,808,433
- MIM
- 606424 OMIM
- HGNC
- HGNC:14660 HGNC
- Ensembl
- ENSG00000269858 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 36 |
| Likely benign | 0 | 534 |
| Uncertain significance | 0 | 552 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
1,114 |
 |
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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| 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 | EIT-6 |
| SYNONYM | EIT6 |
| SYNONYM | HIF-PH1 |
| SYNONYM | HIFPH1 |
| SYNONYM | HPH-1 |
| SYNONYM | HPH-3 |
| SYNONYM | PHD1 |
| MIM | 606424 OMIM |
| HGNC | HGNC:14660 HGNC |
| Ensembl | ENSG00000269858 Ensembl |
| AllianceGenome | HGNC:14660 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000593726.5 | hg38 | chr19 | 40,799,545 | 40,808,433 | 8,889 |
| ENST00000406058.6 | hg38 | chr19 | 40,799,515 | 40,808,432 | 8,918 |
| ENST00000594140.5 | hg38 | chr19 | 40,803,140 | 40,808,378 | 5,239 |
| ENST00000303961.9 | hg38 | chr19 | 40,799,191 | 40,808,434 | 9,244 |
| ENST00000303961.9 | hg19 | chr19 | 41,305,096 | 41,314,339 | 9,244 |
| ENST00000406058.6 | hg19 | chr19 | 41,305,420 | 41,314,337 | 8,918 |
| ENST00000593726.5 | hg19 | chr19 | 41,305,450 | 41,314,338 | 8,889 |
| ENST00000594140.5 | hg19 | chr19 | 41,309,045 | 41,314,283 | 5,239 |
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