AP2B1 adaptor related protein complex 2 subunit beta 1

Information
Symbol
AP2B1
Type
protein-coding
Description
adaptor related protein complex 2 subunit beta 1
Entrez Gene ID
163
Genome
hg19
Position
chr17:33,914,341-34,053,432
Genome
hg38
Position
chr17:35,587,322-35,726,413
MIM
601025 OMIM
HGNC
HGNC:563 HGNC
Ensembl
ENSG00000006125 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
not provided 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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 ADTB2
SYNONYM AP105B
SYNONYM AP2-BETA
SYNONYM CLAPB1
MIM 601025 OMIM
HGNC HGNC:563 HGNC
Ensembl ENSG00000006125 Ensembl
AllianceGenome HGNC:563
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000618940.4 hg38 chr17 35,587,515 35,724,086 136,572
ENST00000610402.5 hg38 chr17 35,587,322 35,726,413 139,092
ENST00000612116.5 hg38 chr17 35,587,452 35,724,091 136,640
ENST00000616681.4 hg38 chr17 35,587,314 35,724,086 136,773
ENST00000621914.4 hg38 chr17 35,587,274 35,726,409 139,136
ENST00000628168.1 hg38 chr17 35,594,031 35,600,985 6,955
ENST00000610402.5 hg19 chr17 33,914,341 34,053,432 139,092
ENST00000616681.4 hg19 chr17 33,914,333 34,051,105 136,773
ENST00000612116.5 hg19 chr17 33,914,471 34,051,110 136,640
ENST00000618940.4 hg19 chr17 33,914,534 34,051,105 136,572
ENST00000628168.1 hg19 chr17 33,921,050 33,928,004 6,955
ENST00000621914.4 hg19 chr17 33,914,293 34,053,428 139,136
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