SLC47A2 solute carrier family 47 member 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 2 |
Likely benign | 0 | 6 |
not provided | 2 | 0 |
Uncertain significance | 0 | 64 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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0 |
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72 |
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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
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 | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
Search Word
Target data | : |
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 |
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 | |||
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Entry | Origin | Type | Annotation |
Type | ID |
---|---|
SYNONYM | MATE2 |
SYNONYM | MATE2-B |
SYNONYM | MATE2-K |
SYNONYM | MATE2K |
MIM | 609833 OMIM |
HGNC | HGNC:26439 HGNC |
Ensembl | ENSG00000180638 Ensembl |
AllianceGenome | HGNC:26439 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000433844.4 | hg38 | chr17 | 19,678,317 | 19,716,584 | 38,268 |
ENST00000325411.9 | hg38 | chr17 | 19,678,288 | 19,716,606 | 38,319 |
ENST00000350657.9 | hg38 | chr17 | 19,678,319 | 19,716,730 | 38,412 |
ENST00000325411.9 | hg19 | chr17 | 19,581,601 | 19,619,919 | 38,319 |
ENST00000433844.4 | hg19 | chr17 | 19,581,630 | 19,619,897 | 38,268 |
ENST00000350657.9 | hg19 | chr17 | 19,581,632 | 19,620,043 | 38,412 |
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