ATP6V1E2 ATPase H+ transporting V1 subunit E2

Information
Symbol
ATP6V1E2
Type
protein-coding
Description
ATPase H+ transporting V1 subunit E2
Entrez Gene ID
90423
Genome
hg19
Position
chr2:46,738,986-46,747,096
Genome
hg38
Position
chr2:46,511,847-46,519,957
MIM
617385 OMIM
HGNC
HGNC:18125 HGNC
Ensembl
ENSG00000250565 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
26
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 ATP6E1
SYNONYM ATP6EL2
SYNONYM ATP6V1EL2
SYNONYM VMA4
MIM 617385 OMIM
HGNC HGNC:18125 HGNC
Ensembl ENSG00000250565 Ensembl
AllianceGenome HGNC:18125
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000522587.6 hg38 chr2 46,511,847 46,542,577 30,731
ENST00000306448.4 hg38 chr2 46,511,847 46,519,957 8,111
ENST00000306448.4 hg19 chr2 46,738,986 46,747,096 8,111
ENST00000522587.6 hg19 chr2 46,738,986 46,769,716 30,731
Genome browser