APPL2 adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2

Information
Symbol
APPL2
Type
protein-coding
Description
adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2
Entrez Gene ID
55198
Genome
hg19
Position
chr12:105,567,986-105,629,861
Genome
hg38
Position
chr12:105,174,208-105,236,083
MIM
606231 OMIM
HGNC
HGNC:18242 HGNC
Ensembl
ENSG00000136044 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 6
Uncertain significance 0 68
Ranking
ClinVar
0
0
0
74
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 DIP13B
MIM 606231 OMIM
HGNC HGNC:18242 HGNC
Ensembl ENSG00000136044 Ensembl
AllianceGenome HGNC:18242
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000546731.1 hg38 chr12 105,174,105 105,176,374 2,270
ENST00000258530.8 hg38 chr12 105,173,300 105,236,174 62,875
ENST00000551662.5 hg38 chr12 105,174,208 105,236,083 61,876
ENST00000539978.6 hg38 chr12 105,173,935 105,233,450 59,516
ENST00000258530.8 hg19 chr12 105,567,078 105,629,952 62,875
ENST00000539978.6 hg19 chr12 105,567,713 105,627,228 59,516
ENST00000546731.1 hg19 chr12 105,567,883 105,570,152 2,270
ENST00000551662.5 hg19 chr12 105,567,986 105,629,861 61,876
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