UBE2N ubiquitin conjugating enzyme E2 N
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 6 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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6 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
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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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | HEL-S-71 |
SYNONYM | UBC13 |
SYNONYM | UBCHBEN |
SYNONYM | UBCHBEN; UBC13 |
SYNONYM | UbcH-ben |
SYNONYM | UbcH13 |
MIM | 603679 OMIM |
HGNC | HGNC:12492 HGNC |
Ensembl | ENSG00000177889 Ensembl |
AllianceGenome | HGNC:12492 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000549833.1 | hg38 | chr12 | 93,409,742 | 93,441,256 | 31,515 |
ENST00000550657.1 | hg38 | chr12 | 93,408,371 | 93,441,943 | 33,573 |
ENST00000552442.1 | hg38 | chr12 | 93,409,801 | 93,441,935 | 32,135 |
ENST00000318066.7 | hg38 | chr12 | 93,405,684 | 93,441,947 | 36,264 |
ENST00000318066.7 | hg19 | chr12 | 93,799,460 | 93,835,723 | 36,264 |
ENST00000550657.1 | hg19 | chr12 | 93,802,147 | 93,835,719 | 33,573 |
ENST00000549833.1 | hg19 | chr12 | 93,803,518 | 93,835,032 | 31,515 |
ENST00000552442.1 | hg19 | chr12 | 93,803,577 | 93,835,711 | 32,135 |
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