HCN2

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

Summary

The protein encoded by this gene is a hyperpolarization-activated cation channel involved in the generation of native pacemaker activity in the heart and in the brain. The encoded protein is activated by cAMP and can produce a fast, large current. Defects in this gene were noted as a possible cause of some forms of epilepsy. [provided by RefSeq, Jan 2017]

Known Variants156 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1199254032	19:589,962	G/T	—	uncertain significance
rs1458121943	19:589,964	G/A	—	uncertain significance
rs1982812372	19:589,974	C/G	—	uncertain significance
rs1272239013	19:590,035	C/T	—	likely benign
rs866177625	19:590,052	C/T	—	likely benign
rs2512439365	19:590,074	C/T	—	likely benign
rs2144498932	19:590,082	G/C	—	uncertain significance
rs113534512	19:590,172	G/A	—	benign
rs1187246548	19:590,187	C/G	—	uncertain significance
rs1060499863	19:590,191	C/T	—	likely benign
rs2512439491	19:590,204	A/C	—	uncertain significance
rs2512439505	19:590,219	A/C	—	uncertain significance
rs1982825439	19:590,222	A/C	—	uncertain significance
rs2512439539	19:590,246	G/A	—	uncertain significance
rs2512439585	19:590,295	C/G	—	uncertain significance
rs2512439609	19:590,316	C/T	—	uncertain significance
rs1258293482	19:590,322	C/T	—	pathogenic
rs186019555	19:590,323	G/T	—	benign
rs1278212308	19:590,327	C/G	—	uncertain significance
rs905611560	19:590,354	G/C	—	likely benign
rs560359968	19:590,366	G/T	—	likely benign
rs200057212	19:590,367	C/T	—	likely benign
rs755611826	19:590,378	G/C	—	uncertain significance
rs2512439688	19:590,388	A/T	—	uncertain significance
rs1172334880	19:590,394	G/C	—	uncertain significance
rs772419784	19:590,400	C/T	—	uncertain significance
rs2144499659	19:590,516	C/T	—	uncertain significance
rs1460617990	19:590,546	G/A	—	uncertain significance
rs2512439870	19:590,560	C/A	—	pathogenic
rs202115554	19:603,639	C/T	—	uncertain significance
rs772145901	19:603,647	G/A	—	risk factor
rs2512448958	19:603,675	T/G	—	uncertain significance
rs1173969754	19:603,701	C/T	—	uncertain significance
rs2512448987	19:603,704	A/T	—	uncertain significance
rs55659726	19:603,769	T/C	—	benign
rs56170955	19:603,826	C/T	—	benign
rs56180027	19:603,832	C/T	—	benign
rs55780677	19:603,874	C/T	—	benign
rs2144516632	19:603,881	C/T	—	conflicting classifications of pathogenicity
rs2512449193	19:603,882	G/A	—	pathogenic
rs2512449221	19:603,912	T/A	—	uncertain significance
rs2512450543	19:605,091	G/A	—	uncertain significance
rs2512450547	19:605,092	C/T	—	pathogenic
rs2144519137	19:605,110	A/G	—	conflicting classifications of pathogenicity
rs1983378020	19:605,124	A/C	—	pathogenic
rs1983378176	19:605,134	T/A	—	conflicting classifications of pathogenicity
rs202076978	19:605,147	C/T	—	benign
rs12981860	19:605,171	T/C	—	benign
rs200053654	19:605,175	C/T	—	likely benign
rs2512450673	19:605,219	G/A	—	uncertain significance
rs80135478	19:605,228	C/T	—	benign
rs756318406	19:607,971	C/T	—	pathogenic
rs3752158	19:607,984	G/C	—	benign
rs371009589	19:608,026	C/T	—	likely benign
rs2144522646	19:608,031	G/A	—	uncertain significance
rs2512452762	19:608,036	G/A	—	uncertain significance
rs1348603825	19:608,081	C/G	—	uncertain significance
rs146953957	19:608,083	C/T	—	likely benign
rs2144522700	19:608,093	G/T	—	not provided
rs1983484636	19:608,112	C/T	—	uncertain significance
rs2512452816	19:608,124	G/A	—	pathogenic
rs1421243469	19:608,129	G/A	—	uncertain significance
rs768008986	19:608,160	C/T	—	uncertain significance
rs2144522788	19:608,162	C/T	—	uncertain significance
rs750959680	19:608,163	G/A	—	conflicting classifications of pathogenicity
rs1600530207	19:608,165	C/T	—	uncertain significance
rs1983486416	19:608,166	G/A	—	uncertain significance
rs34104611	19:610,243	C/G	—	benign
rs34397648	19:610,273	G/A	—	benign
rs2512454602	19:610,299	C/T	—	pathogenic
rs145767637	19:610,324	C/T	—	likely benign
rs1193990526	19:610,325	G/A	—	uncertain significance
rs778645411	19:610,354	G/C	—	uncertain significance
rs746420784	19:610,364	G/A	—	risk factor
rs2512454709	19:610,382	G/A	—	uncertain significance
rs150388404	19:610,390	C/T	—	likely benign
rs201057562	19:610,392	G/A	—	conflicting classifications of pathogenicity
rs761793254	19:610,393	G/A	—	likely benign
rs900889696	19:610,394	C/T	—	uncertain significance
rs55687900	19:610,401	G/A	missense variant	—
rs55978915	19:610,412	C/T	—	likely benign
rs59027729	19:611,321	G/C	—	—
rs1064796423	19:613,291	C/T	—	uncertain significance
rs2512457869	19:613,299	G/C	—	uncertain significance
rs1228076288	19:613,301	C/T	—	likely benign
rs2301778	19:613,307	C/T	—	benign
rs200925272	19:613,319	C/T	—	likely benign
rs2512457907	19:613,320	G/A	—	uncertain significance
rs1207402097	19:613,345	A/G	—	uncertain significance
rs371706250	19:613,355	C/T	—	likely benign
rs2512457945	19:613,357	T/G	—	uncertain significance
rs371730986	19:613,394	C/T	—	benign
rs377071656	19:613,408	A/T	—	uncertain significance
rs1483818563	19:613,413	A/C	—	uncertain significance
rs746133376	19:613,423	G/A	—	pathogenic
rs1983733901	19:613,455	G/A	—	uncertain significance
rs1244430704	19:613,881	A/T	—	uncertain significance
rs1983782523	19:613,915	T/C	—	uncertain significance
rs1235020687	19:613,921	C/G	—	risk factor
rs148730222	19:613,942	A/G	missense variant	uncertain significance

Showing 100 of 156 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.