ACP2 acid phosphatase 2, lysosomal
Clinical Significance
MGeND | ClinVar | |
---|---|---|
Benign | 0 | 14 |
Likely benign | 0 | 10 |
Uncertain significance | 0 | 44 |
Ranking
ClinVar | |
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0 |
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0 |
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0 |
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58 |
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10 |
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
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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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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 |
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MGeND data only
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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 | LAP |
MIM | 171650 OMIM |
HGNC | HGNC:123 HGNC |
Ensembl | ENSG00000134575 Ensembl |
AllianceGenome | HGNC:123 |
Descrption | Source | Links |
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ID | Genome | Chromosome | Start | End | Length |
---|---|---|---|---|---|
ENST00000529444.7 | hg38 | chr11 | 47,239,493 | 47,248,802 | 9,310 |
ENST00000256997.9 | hg38 | chr11 | 47,239,305 | 47,248,906 | 9,602 |
ENST00000672636.2 | hg38 | chr11 | 47,239,302 | 47,248,814 | 9,513 |
ENST00000672787.1 | hg38 | chr11 | 47,244,899 | 47,248,805 | 3,907 |
ENST00000527256.7 | hg38 | chr11 | 47,239,823 | 47,248,819 | 8,997 |
ENST00000672073.1 | hg38 | chr11 | 47,239,302 | 47,248,814 | 9,513 |
ENST00000533929.7 | hg38 | chr11 | 47,240,052 | 47,248,628 | 8,577 |
ENST00000672073.1 | hg19 | chr11 | 47,260,853 | 47,270,365 | 9,513 |
ENST00000672636.2 | hg19 | chr11 | 47,260,853 | 47,270,365 | 9,513 |
ENST00000256997.9 | hg19 | chr11 | 47,260,856 | 47,270,457 | 9,602 |
ENST00000529444.7 | hg19 | chr11 | 47,261,044 | 47,270,353 | 9,310 |
ENST00000527256.7 | hg19 | chr11 | 47,261,374 | 47,270,370 | 8,997 |
ENST00000533929.7 | hg19 | chr11 | 47,261,603 | 47,270,179 | 8,577 |
ENST00000672787.1 | hg19 | chr11 | 47,266,450 | 47,270,356 | 3,907 |
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