ELP2

elongator acetyltransferase complex subunit 2

Summary

The protein encoded by this gene is a core subunit of the elongator complex, a histone acetyltransferase complex that associates with RNA polymerase II. In addition to histone acetylation, the encoded protein effects transcriptional elongation and may help remodel chromatin. [provided by RefSeq, May 2016]

Known Variants128 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs770664170	18:33,709,906	C/G	—	uncertain significance
rs1328523262	18:33,709,922	C/T	—	uncertain significance
rs2511140978	18:33,709,927	G/C	—	uncertain significance
rs138742252	18:33,709,952	G/A	—	conflicting classifications of pathogenicity
rs934861812	18:33,710,031	C/G	—	likely benign
rs79463406	18:33,712,194	G/A	regulatory region variant	—
rs150889303	18:33,713,236	C/T	—	likely benign
rs553697188	18:33,713,240	C/T	—	conflicting classifications of pathogenicity
rs368342716	18:33,713,274	A/G	—	uncertain significance
rs74438152	18:33,716,276	C/G	—	conflicting classifications of pathogenicity
rs538079080	18:33,718,279	C/T	—	uncertain significance
rs558363966	18:33,718,319	A/C	—	likely benign
rs374188452	18:33,718,334	C/G	—	uncertain significance
rs1671838145	18:33,718,341	G/A	—	uncertain significance
rs757852630	18:33,718,363	G/A	—	uncertain significance
rs2511185748	18:33,718,389	G/T	—	uncertain significance
rs2144603879	18:33,718,766	C/A	—	uncertain significance
rs368719635	18:33,718,809	G/A	—	uncertain significance
rs145806147	18:33,719,372	G/A	—	benign
rs1045910547	18:33,719,375	T/G	—	likely benign
rs74586912	18:33,719,409	G/T	—	uncertain significance
rs1158866118	18:33,719,445	T/C	—	uncertain significance
rs1390579868	18:33,719,448	G/A	—	uncertain significance
rs149311464	18:33,719,483	G/A	—	uncertain significance
rs917595185	18:33,719,487	C/T	—	uncertain significance
rs2511193837	18:33,719,513	G/A	—	uncertain significance
rs2511193850	18:33,719,516	A/T	—	uncertain significance
rs1418375371	18:33,719,524	C/T	—	likely benign
rs113602311	18:33,719,555	C/T	—	likely benign
rs368472772	18:33,721,097	C/G	—	uncertain significance
rs752279760	18:33,721,124	A/T	—	uncertain significance
rs148860692	18:33,722,262	C/T	—	uncertain significance
rs773432002	18:33,722,272	A/G	missense variant	pathogenic
rs3737471	18:33,722,716	T/C	intron variant	—
rs777717947	18:33,722,786	T/C	—	uncertain significance
rs369928198	18:33,722,825	G/A	—	likely benign
rs140841474	18:33,722,921	A/G	—	likely benign
rs772956192	18:33,722,927	A/G	—	uncertain significance
rs61755325	18:33,724,913	G/A	—	likely benign
rs1162071264	18:33,724,932	A/G	—	uncertain significance
rs746568871	18:33,724,934	A/G	—	uncertain significance
rs752125164	18:33,725,911	A/G	—	uncertain significance
rs1389450136	18:33,725,936	A/T	—	uncertain significance
rs752920906	18:33,725,968	T/C	—	uncertain significance
rs145025136	18:33,726,005	A/G	—	likely benign
rs367859116	18:33,726,228	G/A	—	uncertain significance
rs754605479	18:33,726,254	T/C	—	likely benign
rs920215685	18:33,726,287	C/G	—	uncertain significance
rs143713231	18:33,726,314	G/A	—	uncertain significance
rs34161623	18:33,726,335	A/T	—	benign
rs763855363	18:33,734,816	G/A	—	uncertain significance
rs2090515872	18:33,734,901	C/T	—	likely pathogenic
rs760067261	18:33,734,910	C/T	—	uncertain significance
rs769243313	18:33,734,916	A/G	—	uncertain significance
rs2090517565	18:33,734,926	A/C	—	uncertain significance
rs143314694	18:33,734,930	T/C	—	uncertain significance
rs1482635726	18:33,734,934	C/T	—	uncertain significance
rs372560977	18:33,734,936	C/T	—	uncertain significance
rs147525600	18:33,734,949	A/T	—	uncertain significance
rs571352087	18:33,736,469	A/G	—	likely benign
rs2090578313	18:33,736,474	C/G	—	uncertain significance
rs139040517	18:33,736,484	T/C	—	uncertain significance
rs149870655	18:33,736,490	T/C	—	likely benign
rs148633121	18:33,736,512	A/G	—	likely benign
rs35094617	18:33,736,534	C/A	—	uncertain significance
rs767713084	18:33,736,537	C/T	missense variant	pathogenic
rs371310428	18:33,736,538	G/A	missense variant	pathogenic
rs749706917	18:33,736,555	C/T	—	uncertain significance
rs779358763	18:33,736,556	G/A	—	uncertain significance
rs2511279166	18:33,736,579	G/A	—	uncertain significance
rs2090583896	18:33,736,587	A/G	—	likely benign
rs201718881	18:33,738,791	A/G	—	likely benign
rs117536068	18:33,738,805	G/C	—	likely benign
rs2511289115	18:33,738,850	A/C	—	uncertain significance
rs2511289165	18:33,738,861	T/C	—	uncertain significance
rs770924278	18:33,739,698	G/A	—	uncertain significance
rs2511293641	18:33,739,707	C/T	—	uncertain significance
rs139343265	18:33,739,735	G/C	—	likely benign
rs28463092	18:33,739,785	T/C	—	benign
rs17563617	18:33,739,790	A/C	—	likely benign
rs1400164869	18:33,739,947	C/T	—	pathogenic
rs774552569	18:33,739,951	A/G	—	uncertain significance
rs772450541	18:33,739,953	A/C	missense variant	pathogenic
rs765907443	18:33,739,981	A/G	—	uncertain significance
rs1455646277	18:33,740,897	A/G	—	uncertain significance
rs761197189	18:33,740,898	T/C	—	likely benign
rs1303852794	18:33,740,906	G/A	—	uncertain significance
rs143162864	18:33,740,932	A/T	—	uncertain significance
rs1598821004	18:33,744,449	A/G	—	likely benign
rs761763158	18:33,744,454	A/G	—	uncertain significance
rs73428967	18:33,744,465	A/G	—	benign
rs2511319201	18:33,744,484	C/T	—	uncertain significance
rs911995621	18:33,744,493	A/C	—	uncertain significance
rs1360211542	18:33,744,513	C/T	—	uncertain significance
rs199848827	18:33,744,524	A/G	—	likely benign
rs1242579852	18:33,744,528	A/G	—	uncertain significance
rs1474265365	18:33,744,545	A/G	—	likely benign
rs2511320092	18:33,744,593	A/G	—	likely benign
rs748788442	18:33,744,599	G/A	—	uncertain significance
rs2511320221	18:33,744,606	C/G	—	uncertain significance

Showing 100 of 128 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.