ATP6V1B2 ATPase H+ transporting V1 subunit B2

Information
Symbol
ATP6V1B2
Type
protein-coding
Description
ATPase H+ transporting V1 subunit B2
Entrez Gene ID
526
Genome
hg19
Position
chr8:20,054,892-20,079,207
Genome
hg38
Position
chr8:20,197,381-20,221,696
MIM
606939 OMIM
HGNC
HGNC:854 HGNC
Ensembl
ENSG00000147416 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 12
Benign 0 50
Likely benign 0 36
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 100
Ranking
ClinVar
0
0
20
176
2
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
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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 ATP6B1B2
SYNONYM ATP6B2
SYNONYM DOOD
SYNONYM HO57
SYNONYM VATB
SYNONYM VPP3
SYNONYM Vma2
SYNONYM ZLS2
MIM 606939 OMIM
HGNC HGNC:854 HGNC
Ensembl ENSG00000147416 Ensembl
AllianceGenome HGNC:854
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000276390.7 hg38 chr8 20,197,381 20,221,696 24,316
ENST00000276390.7 hg19 chr8 20,054,892 20,079,207 24,316
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