NR2C2AP nuclear receptor 2C2 associated protein
Information
- Symbol
- NR2C2AP
- Type
- protein-coding
- Description
- nuclear receptor 2C2 associated protein
- Entrez Gene ID
- 126382
- Genome
- hg19
- Position
- chr19:19,312,225-19,314,166
- Genome
- hg38
- Position
- chr19:19,201,416-19,203,357
- MIM
- 608719 OMIM
- HGNC
- HGNC:30763 HGNC
- Ensembl
- ENSG00000184162 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 2 |
| Likely pathogenic | 0 | 2 |
| Benign | 0 | 6 |
| Likely benign | 0 | 22 |
| Conflicting classifications of pathogenicity | 0 | 2 |
| Uncertain significance | 0 | 32 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
12 |
 |
46 |
 |
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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| 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 | : |
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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 | TRA16 |
| MIM | 608719 OMIM |
| HGNC | HGNC:30763 HGNC |
| Ensembl | ENSG00000184162 Ensembl |
| AllianceGenome | HGNC:30763 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000538165.2 | hg38 | chr19 | 19,202,058 | 19,203,375 | 1,318 |
| ENST00000331552.12 | hg38 | chr19 | 19,201,409 | 19,203,414 | 2,006 |
| ENST00000544883.5 | hg38 | chr19 | 19,201,639 | 19,203,359 | 1,721 |
| ENST00000420605.7 | hg38 | chr19 | 19,201,416 | 19,203,357 | 1,942 |
| ENST00000331552.12 | hg19 | chr19 | 19,312,218 | 19,314,223 | 2,006 |
| ENST00000420605.7 | hg19 | chr19 | 19,312,225 | 19,314,166 | 1,942 |
| ENST00000544883.5 | hg19 | chr19 | 19,312,448 | 19,314,168 | 1,721 |
| ENST00000538165.2 | hg19 | chr19 | 19,312,867 | 19,314,184 | 1,318 |
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