B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

Summary

This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]

Known Variants397 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs74151510	1:235,613,298	C/T	—	benign
rs536145758	1:235,613,324	T/G	—	likely benign
rs142036875	1:235,613,429	C/T	—	likely benign
rs111541487	1:235,613,537	C/T	—	conflicting classifications of pathogenicity
rs151155734	1:235,613,538	G/A	—	uncertain significance
rs772910525	1:235,613,550	C/T	—	uncertain significance
rs1057524072	1:235,613,554	C/G	—	likely benign
rs765882953	1:235,613,555	C/T	—	uncertain significance
rs751445150	1:235,613,556	G/A	—	uncertain significance
rs2527130676	1:235,613,557	T/C	—	likely benign
rs201145660	1:235,613,561	T/C	—	uncertain significance
rs2527130796	1:235,613,566	T/C	—	likely benign
rs202105146	1:235,613,578	C/T	—	likely benign
rs541697587	1:235,613,579	G/A	—	uncertain significance
rs1318460958	1:235,613,581	C/G	—	likely benign
rs754116208	1:235,613,590	C/A	—	likely benign
rs373773440	1:235,613,591	G/A	—	uncertain significance
rs1682818290	1:235,613,599	C/T	—	likely benign
rs1682819380	1:235,613,615	A/T	—	uncertain significance
rs747389723	1:235,613,618	C/G	—	uncertain significance
rs1572474424	1:235,613,627	C/T	—	uncertain significance
rs1682820322	1:235,613,630	G/A	—	uncertain significance
rs2527131592	1:235,613,645	C/A	—	uncertain significance
rs2527131633	1:235,613,649	G/A	—	likely benign
rs202067569	1:235,613,651	C/T	—	uncertain significance
rs1344429713	1:235,613,652	T/C	—	uncertain significance
rs200368164	1:235,613,653	G/A	—	likely benign
rs923489865	1:235,613,659	T/C	—	uncertain significance
rs1572474537	1:235,613,661	G/C	—	likely benign
rs140712438	1:235,613,761	T/C	—	likely benign
rs374537773	1:235,616,160	C/T	—	likely benign
rs6702967	1:235,616,309	T/C	—	benign
rs189833358	1:235,616,347	T/C	—	benign
rs372425330	1:235,616,389	C/A	—	likely benign
rs1558407116	1:235,616,399	T/C	—	uncertain significance
rs1479230229	1:235,616,401	C/G	—	pathogenic
rs775439607	1:235,616,404	G/T	—	uncertain significance
rs140350162	1:235,616,409	C/G	—	benign
rs2102780481	1:235,616,432	C/T	—	likely pathogenic
rs1218246247	1:235,616,433	C/T	—	pathogenic
rs2102780504	1:235,616,441	C/T	—	uncertain significance
rs1041647688	1:235,616,446	T/A	—	uncertain significance
rs1683005563	1:235,616,452	C/T	—	uncertain significance
rs2102780564	1:235,616,466	T/C	—	likely benign
rs2527144781	1:235,616,474	A/G	—	uncertain significance
rs139783604	1:235,616,671	C/T	—	likely benign
rs16832625	1:235,617,283	T/A	—	benign
rs2102782415	1:235,617,453	G/T	—	likely benign
rs1379052702	1:235,617,467	C/G	—	likely pathogenic
rs371512953	1:235,617,471	A/G	—	likely benign
rs2527148123	1:235,617,472	T/C	—	uncertain significance
rs1683057478	1:235,617,475	G/T	—	uncertain significance
rs2527148210	1:235,617,486	C/T	—	likely benign
rs1572482699	1:235,617,489	C/T	—	likely benign
rs776721069	1:235,617,490	G/A	—	uncertain significance
rs1374738059	1:235,617,493	T/C	—	uncertain significance
rs773466522	1:235,617,500	C/A	—	uncertain significance
rs1558407945	1:235,617,505	C/T	—	likely pathogenic
rs762656574	1:235,617,513	G/A	—	likely benign
rs2527148450	1:235,617,522	G/A	—	likely benign
rs1281464527	1:235,617,524	A/T	—	uncertain significance
rs1683060580	1:235,617,534	T/A	—	likely benign
rs1683060698	1:235,617,535	C/T	—	uncertain significance
rs1486202893	1:235,617,545	A/C	—	uncertain significance
rs1683061203	1:235,617,546	T/A	—	likely benign
rs2527148708	1:235,617,556	G/C	—	uncertain significance
rs753271269	1:235,617,562	G/A	—	uncertain significance
rs369079608	1:235,617,563	C/T	—	uncertain significance
rs145518904	1:235,617,564	G/A	—	likely benign
rs554797006	1:235,617,565	G/A	—	uncertain significance
rs757947010	1:235,617,568	C/G	—	uncertain significance
rs375288669	1:235,617,570	C/T	—	likely benign
rs369378819	1:235,617,571	G/A	—	uncertain significance
rs1683062458	1:235,617,572	G/A	—	uncertain significance
rs1398625005	1:235,617,582	C/T	—	likely benign
rs2102782719	1:235,617,591	C/T	—	likely benign
rs898996974	1:235,617,592	T/C	—	uncertain significance
rs373186743	1:235,617,597	G/A	—	likely benign
rs140708018	1:235,617,601	C/T	—	uncertain significance
rs1300792331	1:235,617,602	G/A	—	pathogenic
rs764693057	1:235,617,642	A/G	—	likely benign
rs376365276	1:235,617,644	T/C	—	likely benign
rs1553342808	1:235,617,646	T/C	—	likely benign
rs376973193	1:235,618,857	A/G	—	likely benign
rs777198285	1:235,618,906	T/C	—	likely benign
rs1553342963	1:235,618,914	T/A	—	uncertain significance
rs765751968	1:235,618,918	A/G	—	likely benign
rs1018836177	1:235,618,923	A/C	—	uncertain significance
rs751231735	1:235,618,927	A/G	—	likely benign
rs565049275	1:235,618,930	T/C	—	likely benign
rs138436770	1:235,618,932	C/T	—	uncertain significance
rs1057522976	1:235,618,933	G/A	—	likely benign
rs752094844	1:235,618,934	A/C	—	uncertain significance
rs1470669806	1:235,618,941	T/G	—	uncertain significance
rs1553342979	1:235,618,946	C/T	—	uncertain significance
rs138443370	1:235,618,953	C/T	—	uncertain significance
rs373246690	1:235,618,957	T/C	—	likely benign
rs1553342995	1:235,618,965	G/C	—	uncertain significance
rs745693915	1:235,618,966	C/T	—	likely benign
rs772233739	1:235,618,970	A/C	—	uncertain significance

Showing 100 of 397 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.