TAP2 transporter 2, ATP binding cassette subfamily B member
Information
- Symbol
- TAP2
- Type
- protein-coding
- Description
- transporter 2, ATP binding cassette subfamily B member
- Entrez Gene ID
- 6891
- Genome
- hg19
- Position
- chr6:32,793,192-32,806,179
- Genome
- hg38
- Position
- chr6:32,825,415-32,838,402
- MIM
- 170261 OMIM
- HGNC
- HGNC:44 HGNC
- Ensembl
- ENSG00000204267 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 34 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 94 |
| Likely benign | 0 | 290 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| not provided | 61 | 0 |
| Uncertain significance | 0 | 402 |
Ranking
| ClinVar | |
|---|---|
![]() |
0 |
![]() |
0 |
![]() |
124 |
![]() |
692 |
![]() |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| 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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| Category | : |
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| Search word | : | |
| 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 | : |
|
| 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 | ABC18 |
| SYNONYM | ABCB3 |
| SYNONYM | APT2 |
| SYNONYM | D6S217E |
| SYNONYM | MHC1D2 |
| SYNONYM | PSF-2 |
| SYNONYM | PSF2 |
| SYNONYM | RING11 |
| MIM | 170261 OMIM |
| HGNC | HGNC:44 HGNC |
| Ensembl | ENSG00000204267 Ensembl |
| AllianceGenome | HGNC:44 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000698449.1 | hg38 | chr6 | 32,828,605 | 32,838,739 | 10,135 |
| ENST00000698448.1 | hg38 | chr6 | 32,825,415 | 32,838,402 | 12,988 |
| ENST00000698441.1 | hg38 | chr6 | 32,825,434 | 32,838,722 | 13,289 |
| ENST00000698440.1 | hg38 | chr6 | 32,825,418 | 32,838,682 | 13,265 |
| ENST00000652259.1 | hg38 | chr6 | 32,821,833 | 32,838,739 | 16,907 |
| ENST00000374897.4 | hg38 | chr6 | 32,825,415 | 32,838,739 | 13,325 |
| ENST00000705716.1 | hg38 | chr6 | 32,825,415 | 32,838,739 | 13,325 |
| ENST00000652259.1 | hg19 | chr6 | 32,789,610 | 32,806,516 | 16,907 |
| ENST00000698448.1 | hg19 | chr6 | 32,793,192 | 32,806,179 | 12,988 |
| ENST00000374897.4 | hg19 | chr6 | 32,793,192 | 32,806,516 | 13,325 |
| ENST00000705716.1 | hg19 | chr6 | 32,793,192 | 32,806,516 | 13,325 |
| ENST00000698440.1 | hg19 | chr6 | 32,793,195 | 32,806,459 | 13,265 |
| ENST00000698441.1 | hg19 | chr6 | 32,793,211 | 32,806,499 | 13,289 |
| ENST00000698449.1 | hg19 | chr6 | 32,796,382 | 32,806,516 | 10,135 |
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