ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase

Information
Symbol
ALG2
Type
protein-coding
Description
ALG2 alpha-1,3/1,6-mannosyltransferase
Entrez Gene ID
85365
Genome
hg19
Position
chr9:101,978,707-101,984,224
Genome
hg38
Position
chr9:99,216,425-99,221,942
MIM
607905 OMIM
HGNC
HGNC:23159 HGNC
Ensembl
ENSG00000119523 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 10
Benign 0 26
Likely benign 0 242
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 340
Ranking
ClinVar
0
0
102
502
14
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 CDG1I
SYNONYM CDGIi
SYNONYM CMS14
SYNONYM CMSTA3
SYNONYM NET38
SYNONYM hALPG2
MIM 607905 OMIM
HGNC HGNC:23159 HGNC
Ensembl ENSG00000119523 Ensembl
AllianceGenome HGNC:23159
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000476832.2 hg38 chr9 99,216,425 99,221,942 5,518
ENST00000319033.7 hg38 chr9 99,217,372 99,221,140 3,769
ENST00000476832.2 hg19 chr9 101,978,707 101,984,224 5,518
ENST00000319033.7 hg19 chr9 101,979,654 101,983,422 3,769
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