PM20D2 peptidase M20 domain containing 2

Information
Symbol
PM20D2
Type
protein-coding
Description
peptidase M20 domain containing 2
Entrez Gene ID
135293
Genome
hg19
Position
chr6:89,855,774-89,875,284
Genome
hg38
Position
chr6:89,146,055-89,165,565
MIM
615913 OMIM
HGNC
HGNC:21408 HGNC
Ensembl
ENSG00000146281 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
66
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 ACY1L2
MIM 615913 OMIM
HGNC HGNC:21408 HGNC
Ensembl ENSG00000146281 Ensembl
AllianceGenome HGNC:21408
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000275072.5 hg38 chr6 89,146,055 89,165,565 19,511
ENST00000275072.5 hg19 chr6 89,855,774 89,875,284 19,511
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