AP2A2 adaptor related protein complex 2 subunit alpha 2
Information
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Likely benign | 0 | 4 |
Uncertain significance | 0 | 80 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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84 |
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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
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Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
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Entry | Origin | Type | Annotation | Entry | Origin | Annotation |
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Target data | : |
MGeND data only
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Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Search Word
Target data | : |
MGeND data only
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Category | : |
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Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
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Entry | Origin | Type | Annotation |
Type | ID |
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SYNONYM | ADTAB |
SYNONYM | CLAPA2 |
SYNONYM | HIP-9 |
SYNONYM | HIP9 |
SYNONYM | HYPJ |
MIM | 607242 OMIM |
HGNC | HGNC:562 HGNC |
Ensembl | ENSG00000183020 Ensembl |
AllianceGenome | HGNC:562 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000332231.9 | hg38 | chr11 | 925,809 | 1,012,245 | 86,437 |
ENST00000448903.7 | hg38 | chr11 | 925,870 | 1,012,240 | 86,371 |
ENST00000332231.9 | hg19 | chr11 | 925,809 | 1,012,245 | 86,437 |
ENST00000448903.7 | hg19 | chr11 | 925,870 | 1,012,240 | 86,371 |
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