AGAP2 ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
Information
- Symbol
- AGAP2
- Type
- protein-coding
- Description
- ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
- Entrez Gene ID
- 116986
- Genome
- hg19
- Position
- chr12:58,118,980-58,132,525
- Genome
- hg38
- Position
- chr12:57,725,197-57,738,742
- MIM
- 605476 OMIM
- HGNC
- HGNC:16921 HGNC
- Ensembl
- ENSG00000135439 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 6 |
| Likely benign | 0 | 24 |
| Uncertain significance | 0 | 116 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
4 |
 |
138 |
 |
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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| 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 | CENTG1 |
| SYNONYM | GGAP2 |
| SYNONYM | PIKE |
| MIM | 605476 OMIM |
| HGNC | HGNC:16921 HGNC |
| Ensembl | ENSG00000135439 Ensembl |
| AllianceGenome | HGNC:16921 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000257897.7 | hg38 | chr12 | 57,723,761 | 57,742,157 | 18,397 |
| ENST00000547588.6 | hg38 | chr12 | 57,725,197 | 57,738,742 | 13,546 |
| ENST00000257897.7 | hg19 | chr12 | 58,117,544 | 58,135,940 | 18,397 |
| ENST00000547588.6 | hg19 | chr12 | 58,118,980 | 58,132,525 | 13,546 |
| Key | Value |
|---|---|
| strand | - |
| UniProt | TSG |
| start | 58,118,075 |
| Gene Symbol | AGAP2 |
| Entrez GeneId | 116,986 |
| Chr Band | 12q14.1 |
| end | 58,135,943 |
| chr | chr12 |
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