ELAVL2 ELAV like RNA binding protein 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| not provided | 1 | 0 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
0 |
![]() |
32 |
![]() |
2 |
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
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| 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
|
| Category | : |
|
| 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 | HEL-N1 |
| SYNONYM | HELN1 |
| SYNONYM | HUB |
| MIM | 601673 OMIM |
| HGNC | HGNC:3313 HGNC |
| Ensembl | ENSG00000107105 Ensembl |
| AllianceGenome | HGNC:3313 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000397312.7 | hg38 | chr9 | 23,690,104 | 23,826,240 | 136,137 |
| ENST00000380110.8 | hg38 | chr9 | 23,690,104 | 23,821,275 | 131,172 |
| ENST00000380117.5 | hg38 | chr9 | 23,691,811 | 23,826,337 | 134,527 |
| ENST00000544538.5 | hg38 | chr9 | 23,690,107 | 23,821,848 | 131,742 |
| ENST00000223951.10 | hg38 | chr9 | 23,690,104 | 23,821,480 | 131,377 |
| ENST00000380110.8 | hg19 | chr9 | 23,690,102 | 23,821,273 | 131,172 |
| ENST00000223951.10 | hg19 | chr9 | 23,690,102 | 23,821,478 | 131,377 |
| ENST00000397312.7 | hg19 | chr9 | 23,690,102 | 23,826,238 | 136,137 |
| ENST00000544538.5 | hg19 | chr9 | 23,690,105 | 23,821,846 | 131,742 |
| ENST00000380117.5 | hg19 | chr9 | 23,691,809 | 23,826,335 | 134,527 |
Genome browser




