BST2 bone marrow stromal cell antigen 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Uncertain significance | 0 | 10 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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10 |
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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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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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MGeND data only
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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 | CD317 |
SYNONYM | HM1.24 |
SYNONYM | TETHERIN |
MIM | 600534 OMIM |
HGNC | HGNC:1119 HGNC |
Ensembl | ENSG00000130303 Ensembl |
AllianceGenome | HGNC:1119 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000252593.7 | hg38 | chr19 | 17,402,939 | 17,405,630 | 2,692 |
ENST00000252593.7 | hg19 | chr19 | 17,513,748 | 17,516,439 | 2,692 |
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