ALG2

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

Summary

This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008]

Known Variants270 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18287217619:101,980,219T/C—likely benign
rs7496136399:101,980,221C/G—uncertain significance
rs14753549329:101,980,228T/G—uncertain significance
rs18287220269:101,980,232G/T—uncertain significance
rs3723567809:101,980,237A/T—uncertain significance
rs3769598429:101,980,239A/G—uncertain significance
rs3692319969:101,980,241C/T—conflicting classifications of pathogenicity
rs7637540239:101,980,249C/G—uncertain significance
rs7649168979:101,980,267A/G—likely benign
rs18287231599:101,980,274A/G—likely pathogenic
rs21189974789:101,980,276T/C—likely benign
rs7675845409:101,980,282C/T—likely benign
rs7563105219:101,980,287C/G—uncertain significance
rs9632216739:101,980,290T/C—uncertain significance
rs1382582369:101,980,293C/T—uncertain significance
rs7726490999:101,980,311T/C—uncertain significance
rs3731752379:101,980,312G/C—likely benign
rs13403531649:101,980,314T/C—uncertain significance
rs18287244239:101,980,317C/T—uncertain significance
rs3762298989:101,980,334C/T—conflicting classifications of pathogenicity
rs563932539:101,980,335G/A—uncertain significance
rs5735709729:101,980,351T/C—likely benign
rs7628875749:101,980,352G/A—uncertain significance
rs3690620189:101,980,357T/G—likely benign
rs18287252389:101,980,360G/A—likely benign
rs356265079:101,980,367A/G—benign
rs5623737479:101,980,369C/T—likely benign
rs7541596629:101,980,372G/C—uncertain significance
rs24903820709:101,980,382C/G—uncertain significance
rs18287259259:101,980,389A/G—uncertain significance
rs7474529579:101,980,399A/G—likely benign
rs12468120919:101,980,403T/C—uncertain significance
rs24903821229:101,980,405G/A—likely benign
rs5739278169:101,980,411G/C—likely benign
rs18287267949:101,980,416C/G—uncertain significance
rs15886186859:101,980,420G/A—likely benign
rs2001383339:101,980,429C/T—likely benign
rs5448111109:101,980,430G/A—uncertain significance
rs15886187029:101,980,437C/G—uncertain significance
rs21189981709:101,980,442A/G—uncertain significance
rs7626931969:101,980,447T/C—likely benign
rs18287277439:101,980,451C/G—uncertain significance
rs21189982189:101,980,453C/A—uncertain significance
rs9365311599:101,980,462C/T—uncertain significance
rs14025486919:101,980,476G/C—uncertain significance
rs11575773139:101,980,483G/C—likely benign
rs343829699:101,980,486A/G—likely benign
rs24903824189:101,980,493T/C—uncertain significance
rs12955661789:101,980,496T/C—uncertain significance
rs3734543939:101,980,499C/A—uncertain significance
rs12282421809:101,980,503G/T—uncertain significance
rs21189984169:101,980,505G/T—uncertain significance
rs15886187459:101,980,507G/A—likely benign
rs18287288199:101,980,508T/C—uncertain significance
rs9565090579:101,980,510A/G—likely benign
rs24903825109:101,980,518A/G—uncertain significance
rs3757464539:101,980,519C/T—likely benign
rs7642424019:101,980,520G/A—uncertain significance
rs18287292939:101,980,522G/A—conflicting classifications of pathogenicity
rs7538076679:101,980,531G/A—likely benign
rs24903825429:101,980,532A/T—uncertain significance
rs1473462919:101,980,533G/A—uncertain significance
rs24903825479:101,980,538G/T—uncertain significance
rs14017584529:101,980,549T/C—likely benign
rs7588858929:101,980,573G/C—likely benign
rs9792006739:101,980,580T/C—uncertain significance
rs7805509039:101,980,594G/A—likely benign
rs7475580259:101,980,626A/G—uncertain significance
rs21189987779:101,980,628T/C—uncertain significance
rs18287334839:101,980,653C/T—uncertain significance
rs5518735099:101,980,654G/A—likely benign
rs7739544219:101,980,671C/T—likely benign
rs1834160229:101,980,672G/C—uncertain significance
rs11956810299:101,980,679T/C—uncertain significance
rs12290295119:101,980,683C/A—uncertain significance
rs7653867699:101,980,684C/T—likely benign
rs7668532409:101,980,703G/A—uncertain significance
rs625623749:101,980,707A/C—uncertain significance
rs2017293259:101,980,715C/A—pathogenic
rs18287357929:101,980,721T/C—uncertain significance
rs7772624569:101,980,734C/T—uncertain significance
rs7489470699:101,980,738T/A—likely benign
rs15886188939:101,980,750A/G—likely benign
rs2676020529:101,980,756C/T—likely benign
rs1891677419:101,980,764C/T—uncertain significance
rs3704571589:101,980,765G/A—likely benign
rs7469325859:101,980,768T/C—likely benign
rs24903834909:101,980,776T/C—uncertain significance
rs3685262019:101,980,777G/A—likely benign
rs7626138579:101,980,780G/A—likely benign
rs18287374919:101,980,781A/T—uncertain significance
rs13089833249:101,980,788G/C—uncertain significance
rs8668555949:101,980,789G/C—uncertain significance
rs18287377099:101,980,791A/T—uncertain significance
rs11824087479:101,980,792T/C—likely benign
rs7658828709:101,980,801C/T—likely benign
rs2011265629:101,980,804G/A—likely benign
rs1426595319:101,980,807G/T—likely benign
rs2016671819:101,980,810T/G—likely benign
rs1395476979:101,980,838G/C—uncertain significance

Showing 100 of 270 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.