CRACR2A calcium release activated channel regulator 2A
Information
- Symbol
- CRACR2A
- Type
- protein-coding
- Description
- calcium release activated channel regulator 2A
- Entrez Gene ID
- 84766
- Genome
- hg19
- Position
- chr12:3,724,494-3,862,275
- Genome
- hg38
- Position
- chr12:3,615,328-3,753,109
- MIM
- 614178 OMIM
- HGNC
- HGNC:28657 HGNC
- Ensembl
- ENSG00000130038 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 38 |
| Likely benign | 0 | 4 |
| no classification for the single variant | 0 | 4 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 112 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
152 |
 |
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
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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 | EFCAB4B |
| SYNONYM | RAB46 |
| MIM | 614178 OMIM |
| HGNC | HGNC:28657 HGNC |
| Ensembl | ENSG00000130038 Ensembl |
| AllianceGenome | HGNC:28657 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000440314.7 | hg38 | chr12 | 3,615,328 | 3,753,109 | 137,782 |
| ENST00000252322.1 | hg38 | chr12 | 3,647,943 | 3,753,097 | 105,155 |
| ENST00000440314.7 | hg19 | chr12 | 3,724,494 | 3,862,275 | 137,782 |
| ENST00000252322.1 | hg19 | chr12 | 3,757,109 | 3,862,263 | 105,155 |
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