MAGED2 MAGE family member D2
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 10 |
| Likely pathogenic | 0 | 10 |
| Benign | 0 | 74 |
| Likely benign | 0 | 40 |
| Conflicting classifications of pathogenicity | 0 | 4 |
| not provided | 6 | 0 |
| Uncertain significance | 0 | 86 |
Ranking
| ClinVar | |
|---|---|
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0 |
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0 |
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22 |
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182 |
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8 |
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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| 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 | 11B6 |
| SYNONYM | BARTS5 |
| SYNONYM | BCG-1 |
| SYNONYM | BCG1 |
| SYNONYM | HCA10 |
| SYNONYM | MAGE-D2 |
| MIM | 300470 OMIM |
| HGNC | HGNC:16353 HGNC |
| Ensembl | ENSG00000102316 Ensembl |
| AllianceGenome | HGNC:16353 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000627068.2 | hg38 | chrX | 54,807,599 | 54,815,694 | 8,096 |
| ENST00000375053.6 | hg38 | chrX | 54,807,599 | 54,815,694 | 8,096 |
| ENST00000218439.8 | hg38 | chrX | 54,808,338 | 54,815,694 | 7,357 |
| ENST00000347546.8 | hg38 | chrX | 54,807,747 | 54,816,007 | 8,261 |
| ENST00000375058.5 | hg38 | chrX | 54,808,371 | 54,816,007 | 7,637 |
| ENST00000375060.5 | hg38 | chrX | 54,808,371 | 54,816,012 | 7,642 |
| ENST00000396224.1 | hg38 | chrX | 54,809,060 | 54,815,694 | 6,635 |
| ENST00000375068.6 | hg38 | chrX | 54,807,745 | 54,816,015 | 8,271 |
| ENST00000375053.6 | hg19 | chrX | 54,834,032 | 54,842,127 | 8,096 |
| ENST00000627068.2 | hg19 | chrX | 54,834,032 | 54,842,127 | 8,096 |
| ENST00000375068.6 | hg19 | chrX | 54,834,178 | 54,842,448 | 8,271 |
| ENST00000347546.8 | hg19 | chrX | 54,834,180 | 54,842,440 | 8,261 |
| ENST00000218439.8 | hg19 | chrX | 54,834,771 | 54,842,127 | 7,357 |
| ENST00000375058.5 | hg19 | chrX | 54,834,804 | 54,842,440 | 7,637 |
| ENST00000375060.5 | hg19 | chrX | 54,834,804 | 54,842,445 | 7,642 |
| ENST00000396224.1 | hg19 | chrX | 54,835,493 | 54,842,127 | 6,635 |
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