CHMP2B charged multivesicular body protein 2B

Information
Symbol
CHMP2B
Type
protein-coding
Description
charged multivesicular body protein 2B
Entrez Gene ID
25978
Genome
hg19
Position
chr3:87,276,459-87,304,706
Genome
hg38
Position
chr3:87,227,309-87,255,556
MIM
609512 OMIM
HGNC
HGNC:24537 HGNC
Ensembl
ENSG00000083937 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 6 54
Likely benign 0 80
Conflicting classifications of pathogenicity 0 18
not provided 0 2
Uncertain significance 0 152
Ranking
ClinVar
0
0
46
218
10
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
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 ALS17
SYNONYM CHMP2.5
SYNONYM DMT1
SYNONYM FTDALS7
SYNONYM VPS2-2
SYNONYM VPS2B
MIM 609512 OMIM
HGNC HGNC:24537 HGNC
Ensembl ENSG00000083937 Ensembl
AllianceGenome HGNC:24537
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000263780.9 hg38 chr3 87,227,309 87,255,556 28,248
ENST00000471660.5 hg38 chr3 87,227,271 87,255,548 28,278
ENST00000676705.1 hg38 chr3 87,227,312 87,255,486 28,175
ENST00000494980.5 hg38 chr3 87,227,302 87,254,224 26,923
ENST00000472024.3 hg38 chr3 87,227,309 87,255,486 28,178
ENST00000471660.5 hg19 chr3 87,276,421 87,304,698 28,278
ENST00000494980.5 hg19 chr3 87,276,452 87,303,374 26,923
ENST00000472024.3 hg19 chr3 87,276,459 87,304,636 28,178
ENST00000263780.9 hg19 chr3 87,276,459 87,304,706 28,248
ENST00000676705.1 hg19 chr3 87,276,462 87,304,636 28,175
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