HEY2 hes related family bHLH transcription factor with YRPW motif 2
Information
- Symbol
- HEY2
- Type
- protein-coding
- Description
- hes related family bHLH transcription factor with YRPW motif 2
- Entrez Gene ID
- 23493
- Genome
- hg19
- Position
- chr6:126,070,778-126,082,415
- Genome
- hg38
- Position
- chr6:125,749,632-125,761,269
- MIM
- 604674 OMIM
- HGNC
- HGNC:4881 HGNC
- Ensembl
- ENSG00000135547 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 8 |
| Likely benign | 0 | 2 |
| Uncertain significance | 0 | 46 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
52 |
 |
4 |
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 | CHF1 |
| SYNONYM | GRIDLOCK |
| SYNONYM | GRL |
| SYNONYM | HERP1 |
| SYNONYM | HESR2 |
| SYNONYM | HRT2 |
| SYNONYM | bHLHb32 |
| MIM | 604674 OMIM |
| HGNC | HGNC:4881 HGNC |
| Ensembl | ENSG00000135547 Ensembl |
| AllianceGenome | HGNC:4881 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000368364.4 | hg38 | chr6 | 125,749,632 | 125,761,269 | 11,638 |
| ENST00000368365.5 | hg38 | chr6 | 125,747,664 | 125,761,269 | 13,606 |
| ENST00000368365.5 | hg19 | chr6 | 126,068,810 | 126,082,415 | 13,606 |
| ENST00000368364.4 | hg19 | chr6 | 126,070,778 | 126,082,415 | 11,638 |
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