EEF1B2 eukaryotic translation elongation factor 1 beta 2
Information
- Symbol
- EEF1B2
- Type
- protein-coding
- Description
- eukaryotic translation elongation factor 1 beta 2
- Entrez Gene ID
- 1933
- Genome
- hg19
- Position
- chr2:207,024,331-207,027,651
- Genome
- hg38
- Position
- chr2:206,159,607-206,162,927
- MIM
- 600655 OMIM
- HGNC
- HGNC:3208 HGNC
- Ensembl
- ENSG00000114942 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 6 |
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 22 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
34 |
 |
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 | EEF1B |
| SYNONYM | EEF1B1 |
| SYNONYM | EF1B |
| MIM | 600655 OMIM |
| HGNC | HGNC:3208 HGNC |
| Ensembl | ENSG00000114942 Ensembl |
| AllianceGenome | HGNC:3208 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000445505.6 | hg38 | chr2 | 206,159,607 | 206,162,927 | 3,321 |
| ENST00000392222.7 | hg38 | chr2 | 206,159,895 | 206,162,928 | 3,034 |
| ENST00000236957.9 | hg38 | chr2 | 206,159,585 | 206,162,928 | 3,344 |
| ENST00000236957.9 | hg19 | chr2 | 207,024,309 | 207,027,652 | 3,344 |
| ENST00000445505.6 | hg19 | chr2 | 207,024,331 | 207,027,651 | 3,321 |
| ENST00000392222.7 | hg19 | chr2 | 207,024,619 | 207,027,652 | 3,034 |
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