SLC31A2 solute carrier family 31 member 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely pathogenic | 1 | 0 |
Likely benign | 0 | 2 |
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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12 |
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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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Search word | : | |
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 |
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SYNONYM | COPT2 |
SYNONYM | CTR2 |
SYNONYM | hCTR2 |
MIM | 603088 OMIM |
HGNC | HGNC:11017 HGNC |
Ensembl | ENSG00000136867 Ensembl |
AllianceGenome | HGNC:11017 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
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ENST00000259392.8 | hg38 | chr9 | 113,151,007 | 113,164,140 | 13,134 |
ENST00000259392.8 | hg19 | chr9 | 115,913,287 | 115,926,420 | 13,134 |
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