POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

Information
Symbol
POMGNT2
Type
protein-coding
Description
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Entrez Gene ID
84892
Genome
hg19
Position
chr3:43,120,721-43,147,577
Genome
hg38
Position
chr3:43,079,229-43,106,085
MIM
614828 OMIM
HGNC
HGNC:25902 HGNC
Ensembl
ENSG00000144647 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 40
Likely pathogenic 4 14
Benign 0 40
Likely benign 0 282
Conflicting classifications of pathogenicity 0 28
Uncertain significance 0 476
Ranking
ClinVar
0
0
194
632
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 AGO61
SYNONYM C3orf39
SYNONYM GTDC2
SYNONYM MDDGA8
SYNONYM MDDGC8
MIM 614828 OMIM
HGNC HGNC:25902 HGNC
Ensembl ENSG00000144647 Ensembl
AllianceGenome HGNC:25902
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000441964.1 hg38 chr3 43,079,232 43,105,939 26,708
ENST00000344697.3 hg38 chr3 43,079,234 43,106,079 26,846
ENST00000686643.1 hg38 chr3 43,079,375 43,105,858 26,484
ENST00000693717.1 hg38 chr3 43,079,259 43,105,380 26,122
ENST00000687440.1 hg38 chr3 43,079,229 43,106,085 26,857
ENST00000692017.1 hg38 chr3 43,079,240 43,105,828 26,589
ENST00000689987.1 hg38 chr3 43,079,266 43,105,832 26,567
ENST00000687440.1 hg19 chr3 43,120,721 43,147,577 26,857
ENST00000441964.1 hg19 chr3 43,120,724 43,147,431 26,708
ENST00000344697.3 hg19 chr3 43,120,726 43,147,571 26,846
ENST00000692017.1 hg19 chr3 43,120,732 43,147,320 26,589
ENST00000693717.1 hg19 chr3 43,120,751 43,146,872 26,122
ENST00000689987.1 hg19 chr3 43,120,758 43,147,324 26,567
ENST00000686643.1 hg19 chr3 43,120,867 43,147,350 26,484
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