TNPO2 transportin 2
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Pathogenic | 0 | 8 |
Likely pathogenic | 0 | 20 |
Benign | 0 | 16 |
Likely benign | 0 | 14 |
Uncertain significance | 0 | 70 |
Ranking
ClinVar | |
---|---|
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0 |
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0 |
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4 |
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116 |
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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
[No Data.]
Locus Zoom
Variants
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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 |
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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 | IDDHISD |
SYNONYM | IPO3 |
SYNONYM | KPNB2B |
SYNONYM | TRN2 |
MIM | 603002 OMIM |
HGNC | HGNC:19998 HGNC |
Ensembl | ENSG00000105576 Ensembl |
AllianceGenome | HGNC:19998 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000425528.6 | hg38 | chr19 | 12,699,201 | 12,723,932 | 24,732 |
ENST00000450764.6 | hg38 | chr19 | 12,699,673 | 12,721,715 | 22,043 |
ENST00000356861.9 | hg38 | chr19 | 12,699,201 | 12,722,355 | 23,155 |
ENST00000592287.5 | hg38 | chr19 | 12,701,153 | 12,722,572 | 21,420 |
ENST00000588216.5 | hg38 | chr19 | 12,701,327 | 12,724,011 | 22,685 |
ENST00000356861.9 | hg19 | chr19 | 12,810,015 | 12,833,169 | 23,155 |
ENST00000425528.6 | hg19 | chr19 | 12,810,015 | 12,834,746 | 24,732 |
ENST00000450764.6 | hg19 | chr19 | 12,810,487 | 12,832,529 | 22,043 |
ENST00000588216.5 | hg19 | chr19 | 12,812,141 | 12,834,825 | 22,685 |
ENST00000592287.5 | hg19 | chr19 | 12,811,967 | 12,833,386 | 21,420 |
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