EEF1A2 eukaryotic translation elongation factor 1 alpha 2
Information
- Symbol
- EEF1A2
- Type
- protein-coding
- Description
- eukaryotic translation elongation factor 1 alpha 2
- Entrez Gene ID
- 1917
- Genome
- hg19
- Position
- chr20:62,119,367-62,130,436
- Genome
- hg38
- Position
- chr20:63,488,014-63,499,083
- MIM
- 602959 OMIM
- HGNC
- HGNC:3192 HGNC
- Ensembl
- ENSG00000101210 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 6 | 22 |
| Likely pathogenic | 0 | 60 |
| Benign | 0 | 130 |
| Likely benign | 0 | 586 |
| Conflicting classifications of pathogenicity | 0 | 34 |
| Uncertain significance | 0 | 298 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
222 |
 |
814 |
 |
20 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| Category | : |
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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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| Category | : |
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| Search word | : | |
| 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
|
| Category | : |
|
| 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 | DEE33 |
| SYNONYM | EEF1AL |
| SYNONYM | EF-1-alpha-2 |
| SYNONYM | EF1A |
| SYNONYM | EIEE33 |
| SYNONYM | HS1 |
| SYNONYM | MRD38 |
| SYNONYM | STN |
| SYNONYM | STNL |
| MIM | 602959 OMIM |
| HGNC | HGNC:3192 HGNC |
| Ensembl | ENSG00000101210 Ensembl |
| AllianceGenome | HGNC:3192 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000217182.6 | hg38 | chr20 | 63,488,014 | 63,499,083 | 11,070 |
| ENST00000706949.1 | hg38 | chr20 | 63,488,015 | 63,499,083 | 11,069 |
| ENST00000706948.1 | hg38 | chr20 | 63,488,014 | 63,499,083 | 11,070 |
| ENST00000706948.1 | hg19 | chr20 | 62,119,367 | 62,130,436 | 11,070 |
| ENST00000217182.6 | hg19 | chr20 | 62,119,367 | 62,130,436 | 11,070 |
| ENST00000706949.1 | hg19 | chr20 | 62,119,368 | 62,130,436 | 11,069 |
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