ALG2
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ALG2 (HGNC:23159) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ALG2 alpha-1,3/1,6-mannosyltransferase
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CDGIi, FLJ14511, hALPG2, NET38, CDG1I
%HI
54.65(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.41(Read more about gnomAD LOEUF score)
Cytoband
9q22.33
Genomic Coordinates
GRCh37/hg19: chr9:101978707-101984224 NCBI Ensembl UCSC
GRCh38/hg38: chr9:99216425-99221942 NCBI Ensembl UCSC
MANE Select Transcript
NM_033087.4 ENST00000476832.2 (Read more about MANE Select)
Function
Mannosylates Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. {ECO:0000269|PubMed:12684507}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10355
ClinGen Curation ID:
CCID:006654
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • congenital myasthenic syndrome 14 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000009.11) (NC_000009.12)