TBC1D2 TBC1 domain family member 2

Information
Symbol
TBC1D2
Type
protein-coding
Description
TBC1 domain family member 2
Entrez Gene ID
55357
Genome
hg19
Position
chr9:100,961,293-101,017,931
Genome
hg38
Position
chr9:98,199,011-98,255,649
MIM
609871 OMIM
HGNC
HGNC:18026 HGNC
Ensembl
ENSG00000095383 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 18
Likely benign 0 14
Uncertain significance 0 108
Ranking
ClinVar
0
0
0
140
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
Search Word
Target data :
MGeND data only
Category :
Search word :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM PARIS-1
SYNONYM PARIS1
SYNONYM TBC1D2A
MIM 609871 OMIM
HGNC HGNC:18026 HGNC
Ensembl ENSG00000095383 Ensembl
AllianceGenome HGNC:18026
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000342112.9 hg38 chr9 98,199,029 98,255,590 56,562
ENST00000465784.7 hg38 chr9 98,199,011 98,255,649 56,639
ENST00000375066.6 hg38 chr9 98,199,029 98,255,633 56,605
ENST00000375063.5 hg38 chr9 98,199,026 98,213,550 14,525
ENST00000375064.5 hg38 chr9 98,199,029 98,255,580 56,552
ENST00000465784.7 hg19 chr9 100,961,293 101,017,931 56,639
ENST00000375063.5 hg19 chr9 100,961,308 100,975,832 14,525
ENST00000375064.5 hg19 chr9 100,961,311 101,017,862 56,552
ENST00000342112.9 hg19 chr9 100,961,311 101,017,872 56,562
ENST00000375066.6 hg19 chr9 100,961,311 101,017,915 56,605
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