AP2A1 adaptor related protein complex 2 subunit alpha 1

Information
Symbol
AP2A1
Type
protein-coding
Description
adaptor related protein complex 2 subunit alpha 1
Entrez Gene ID
160
Genome
hg19
Position
chr19:50,270,258-50,310,371
Genome
hg38
Position
chr19:49,767,001-49,807,114
MIM
601026 OMIM
HGNC
HGNC:561 HGNC
Ensembl
ENSG00000196961 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 2
Uncertain significance 0 84
Ranking
ClinVar
0
0
0
90
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 :
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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 ADTAA
SYNONYM AP2-ALPHA
SYNONYM CLAPA1
MIM 601026 OMIM
HGNC HGNC:561 HGNC
Ensembl ENSG00000196961 Ensembl
AllianceGenome HGNC:561
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000359032.10 hg38 chr19 49,767,001 49,807,114 40,114
ENST00000354293.10 hg38 chr19 49,767,001 49,807,114 40,114
ENST00000354293.10 hg19 chr19 50,270,258 50,310,371 40,114
ENST00000359032.10 hg19 chr19 50,270,258 50,310,371 40,114
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