ATP6AP2 ATPase H+ transporting accessory protein 2

Information
Symbol
ATP6AP2
Type
protein-coding
Description
ATPase H+ transporting accessory protein 2
Entrez Gene ID
10159
Genome
hg19
Position
chrX:40,440,222-40,466,100
Genome
hg38
Position
chrX:40,580,970-40,606,848
MIM
300556 OMIM
HGNC
HGNC:18305 HGNC
Ensembl
ENSG00000182220 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Likely pathogenic 0 2
Benign 0 54
Likely benign 0 160
Conflicting classifications of pathogenicity 0 16
not provided 6 0
Uncertain significance 0 196
Ranking
ClinVar
0
0
66
336
8
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 APT6M8-9
SYNONYM ATP6IP2
SYNONYM ATP6M8-9
SYNONYM CDG2R
SYNONYM ELDF10
SYNONYM HT028
SYNONYM M8-9
SYNONYM MRXE
SYNONYM MRXSH
SYNONYM MSTP009
SYNONYM PRR
SYNONYM RENR
SYNONYM XMRE
SYNONYM XPDS
MIM 300556 OMIM
HGNC HGNC:18305 HGNC
Ensembl ENSG00000182220 Ensembl
AllianceGenome HGNC:18305
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000378438.9 hg38 chrX 40,580,958 40,606,619 25,662
ENST00000636251.1 hg38 chrX 40,580,970 40,606,617 25,648
ENST00000636196.1 hg38 chrX 40,580,970 40,606,024 25,055
ENST00000636580.2 hg38 chrX 40,580,970 40,606,848 25,879
ENST00000638153.1 hg38 chrX 40,580,949 40,605,945 24,997
ENST00000636970.1 hg38 chrX 40,580,960 40,606,010 25,051
ENST00000636287.1 hg38 chrX 40,580,998 40,606,637 25,640
ENST00000423649.2 hg38 chrX 40,580,982 40,605,945 24,964
ENST00000637482.1 hg38 chrX 40,580,970 40,606,619 25,650
ENST00000636409.1 hg38 chrX 40,580,894 40,606,588 25,695
ENST00000447485.6 hg38 chrX 40,581,036 40,605,946 24,911
ENST00000637526.1 hg38 chrX 40,580,937 40,606,466 25,530
ENST00000637327.1 hg38 chrX 40,580,910 40,606,606 25,697
ENST00000636409.1 hg19 chrX 40,440,146 40,465,840 25,695
ENST00000423649.2 hg19 chrX 40,440,234 40,465,197 24,964
ENST00000447485.6 hg19 chrX 40,440,288 40,465,198 24,911
ENST00000378438.9 hg19 chrX 40,440,210 40,465,871 25,662
ENST00000636196.1 hg19 chrX 40,440,222 40,465,276 25,055
ENST00000636251.1 hg19 chrX 40,440,222 40,465,869 25,648
ENST00000636287.1 hg19 chrX 40,440,250 40,465,889 25,640
ENST00000636970.1 hg19 chrX 40,440,212 40,465,262 25,051
ENST00000637327.1 hg19 chrX 40,440,162 40,465,858 25,697
ENST00000637526.1 hg19 chrX 40,440,189 40,465,718 25,530
ENST00000638153.1 hg19 chrX 40,440,201 40,465,197 24,997
ENST00000636580.2 hg19 chrX 40,440,222 40,466,100 25,879
ENST00000637482.1 hg19 chrX 40,440,222 40,465,871 25,650
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