RIMBP2 RIMS binding protein 2

Information
Symbol
RIMBP2
Type
protein-coding
Description
RIMS binding protein 2
Entrez Gene ID
23504
Genome
hg19
Position
chr12:130,880,678-131,200,844
Genome
hg38
Position
chr12:130,396,133-130,716,299
MIM
611602 OMIM
HGNC
HGNC:30339 HGNC
Ensembl
ENSG00000060709 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 26
Uncertain significance 0 118
Ranking
ClinVar
0
0
0
146
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 :
Filtering :
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 PPP1R133
SYNONYM RBP2
SYNONYM RIM-BP2
MIM 611602 OMIM
HGNC HGNC:30339 HGNC
Ensembl ENSG00000060709 Ensembl
AllianceGenome HGNC:30339
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000688340.1 hg38 chr12 130,431,565 130,634,167 202,603
ENST00000690449.1 hg38 chr12 130,396,133 130,716,299 320,167
ENST00000707118.1 hg38 chr12 130,397,011 130,716,264 319,254
ENST00000691977.1 hg38 chr12 130,396,177 130,768,228 372,052
ENST00000690669.1 hg38 chr12 130,396,177 130,716,260 320,084
ENST00000689851.1 hg38 chr12 130,399,023 130,716,299 317,277
ENST00000261655.8 hg38 chr12 130,396,137 130,517,865 121,729
ENST00000643940.1 hg38 chr12 130,396,177 130,716,281 320,105
ENST00000690449.1 hg19 chr12 130,880,678 131,200,844 320,167
ENST00000261655.8 hg19 chr12 130,880,682 131,002,410 121,729
ENST00000690669.1 hg19 chr12 130,880,722 131,200,805 320,084
ENST00000643940.1 hg19 chr12 130,880,722 131,200,826 320,105
ENST00000691977.1 hg19 chr12 130,880,722 131,252,773 372,052
ENST00000707118.1 hg19 chr12 130,881,556 131,200,809 319,254
ENST00000689851.1 hg19 chr12 130,883,568 131,200,844 317,277
ENST00000688340.1 hg19 chr12 130,916,110 131,118,712 202,603
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