ENO2 enolase 2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 4 |
| Uncertain significance | 0 | 34 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
40 |
 |
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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| 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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| 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-S-279 |
| SYNONYM | NSE |
| MIM | 131360 OMIM |
| HGNC | HGNC:3353 HGNC |
| Ensembl | ENSG00000111674 Ensembl |
| AllianceGenome | HGNC:3353 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000538763.5 | hg38 | chr12 | 6,914,589 | 6,923,184 | 8,596 |
| ENST00000545045.6 | hg38 | chr12 | 6,914,610 | 6,923,698 | 9,089 |
| ENST00000229277.6 | hg38 | chr12 | 6,914,580 | 6,923,697 | 9,118 |
| ENST00000535366.5 | hg38 | chr12 | 6,915,207 | 6,923,696 | 8,490 |
| ENST00000541477.5 | hg38 | chr12 | 6,914,327 | 6,923,696 | 9,370 |
| ENST00000541477.5 | hg19 | chr12 | 7,023,491 | 7,032,859 | 9,369 |
| ENST00000229277.6 | hg19 | chr12 | 7,023,744 | 7,032,860 | 9,117 |
| ENST00000538763.5 | hg19 | chr12 | 7,023,753 | 7,032,347 | 8,595 |
| ENST00000545045.6 | hg19 | chr12 | 7,023,774 | 7,032,861 | 9,088 |
| ENST00000535366.5 | hg19 | chr12 | 7,024,371 | 7,032,859 | 8,489 |
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