BIRC2 baculoviral IAP repeat containing 2
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 0 | 2 |
| Likely benign | 0 | 6 |
| not provided | 63 | 0 |
| Uncertain significance | 0 | 66 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
0 |
 |
74 |
 |
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
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 | API1 |
| SYNONYM | HIAP2 |
| SYNONYM | Hiap-2 |
| SYNONYM | MIHB |
| SYNONYM | RNF48 |
| SYNONYM | c-IAP1 |
| SYNONYM | cIAP1 |
| MIM | 601712 OMIM |
| HGNC | HGNC:590 HGNC |
| Ensembl | ENSG00000110330 Ensembl |
| AllianceGenome | HGNC:590 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000530675.5 | hg38 | chr11 | 102,347,214 | 102,378,236 | 31,023 |
| ENST00000613397.4 | hg38 | chr11 | 102,347,374 | 102,378,663 | 31,290 |
| ENST00000227758.7 | hg38 | chr11 | 102,347,214 | 102,378,670 | 31,457 |
| ENST00000532672.5 | hg38 | chr11 | 102,347,247 | 102,378,669 | 31,423 |
| ENST00000530675.5 | hg19 | chr11 | 102,217,945 | 102,248,967 | 31,023 |
| ENST00000227758.7 | hg19 | chr11 | 102,217,945 | 102,249,401 | 31,457 |
| ENST00000532672.5 | hg19 | chr11 | 102,217,978 | 102,249,400 | 31,423 |
| ENST00000613397.4 | hg19 | chr11 | 102,218,105 | 102,249,394 | 31,290 |
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