ATP1A2 ATPase Na+/K+ transporting subunit alpha 2

Information
Symbol
ATP1A2
Type
protein-coding
Description
ATPase Na+/K+ transporting subunit alpha 2
Entrez Gene ID
477
Genome
hg19
Position
chr1:160,085,549-160,113,381
Genome
hg38
Position
chr1:160,115,759-160,143,591
MIM
182340 OMIM
HGNC
HGNC:800 HGNC
Ensembl
ENSG00000018625 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 112
Likely pathogenic 1 138
Benign 18 262
Likely benign 0 934
Conflicting classifications of pathogenicity 0 140
Uncertain significance 0 1,056
Ranking
ClinVar
0
0
534
1,858
16
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 :
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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 DEE98
SYNONYM FARIMPD
SYNONYM FHM2
SYNONYM MHP2
MIM 182340 OMIM
HGNC HGNC:800 HGNC
Ensembl ENSG00000018625 Ensembl
AllianceGenome HGNC:800
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000361216.8 hg38 chr1 160,115,759 160,143,591 27,833
ENST00000392233.7 hg38 chr1 160,115,777 160,141,545 25,769
ENST00000361216.8 hg19 chr1 160,085,549 160,113,381 27,833
ENST00000392233.7 hg19 chr1 160,085,567 160,111,335 25,769
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