ALG1L2

Chr 3

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2

NCBI Gene: 644974 ENSG00000251287 UniProt: C9J202

Predicted to enable mannosyltransferase activity. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in ALG1L2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 76

351 rare PASS variants

Rare truncating (LoF)

1 in 850

44 rare PASS variants

Rare synonymous (reference)

1 in 86

114 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ALG1L2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 4,600
South Asian	~43k	1 in 66	1 in 500
Remaining (unassigned)	~30k	1 in 47	1 in 1,200
European (Finnish)	~27k	1 in 270	≈ 1 in 11,000
Admixed American	~22k	1 in 110	1 in 750
African / African American	~21k	1 in 81	1 in 2,200
East Asian	~20k	1 in 96	1 in 480
Ashkenazi Jewish	~13k	1 in 260	none seen
Middle Eastern	~2,791	1 in 66	≈ 1 in 2,100

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 8 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 8.? see exons ↓