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Gene

ALG2

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

Summary

Cytogenetic location
9q22.33
Coordinates
Chromosome 9: 99,216,425–99,221,942 (GRCh38)
Exons
2 exons across 5.5 kb
Protein
416 amino acids
Also known as
CDGIi, FLJ14511, hALPG2, NET38, CDG1I
MANE Select transcript
ENST00000476832.2NM_033087.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Myasthenic Syndrome

    • Congenital Myasthenic Syndrome (All Types)

      Umbrella term covering all congenital myasthenic syndromes, including the common CHRNE, RAPSN, DOK7 and MUSK forms.

      • 2 GenCC submitters rate it definitive or strong
      What knowing changes

      Many forms respond to specific medications such as pyridostigmine, salbutamol or ephedrine, and the right choice depends on the gene involved.

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • ClinGen rates the link strong
      • 5 GenCC submitters rate it definitive or strong

How ALG2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where ALG2 sits. ALG2 and 5 genes near it on chromosome 9, from 98,719,184 to 99,719,183.Chromosome 99q22.33p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.398.8 Mb99 Mb99.2 Mb99.4 Mb99.6 MbANKS6: 98,729,898–98,796,965, reverse strandANKS6GALNT12: 98,807,613–98,851,267, forward strandGALNT12COL15A1: 98,942,680–99,071,117, forward strandCOL15A1TGFBR1: 99,104,038–99,154,395, forward strandTGFBR1ALG2: 99,216,425–99,221,942, reverse strandALG2SEC61B: 99,222,064–99,230,696, forward strandSEC61BDiagram of ALG2: 2 exons on the reverse strand of chromosome 9Exon 2: 3 known disease-causing sitesExon 1: 3 known disease-causing sitesExon 2: 99,216,425–99,218,836, 2,412 basesExon 1: 99,221,547–99,221,942, 396 bases215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.8 kb of the gene's 5.5 kb; 1,251 of those bases code for the protein.

How a genome test reads ALG2

6

positions in ALG2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 5.5 kb of ALG2, introns included, not only the 2.8 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ALG2 gene: ALG2 alpha-1,3/1,6-mannosyltransferase. Retrieved 16 October 2026, from https://dantelabs.com/genes/alg2

Vancouver

Dante Labs. ALG2 gene: ALG2 alpha-1,3/1,6-mannosyltransferase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/alg2

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