CHRM2

cholinergic receptor muscarinic 2

Summary

The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine to these receptors and includes cellular responses such as adenylate cyclase inhibition, phosphoinositide degeneration, and potassium channel mediation. Muscarinic receptors influence many effects of acetylcholine in the central and peripheral nervous system. The muscarinic cholinergic receptor 2 is involved in mediation of bradycardia and a decrease in cardiac contractility. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

Known Variants181 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs566459725	7:136,553,924	G/C	—	likely benign
rs535258435	7:136,553,934	C/G	—	likely benign
rs1554407126	7:136,553,939	C/T	—	likely benign
rs139124053	7:136,554,023	G/A	—	benign
rs77128879	7:136,554,160	C/T	—	benign
rs6969811	7:136,573,370	T/C	intron variant	—
rs1364402	7:136,584,363	T/C	upstream gene variant	—
rs7810473	7:136,596,457	A/T	—	—
rs17168815	7:136,624,621	G/T	upstream gene variant	—
rs1455858	7:136,631,703	T/C	intron variant	—
rs28529003	7:136,635,551	T/A	—	benign
rs6960707	7:136,635,617	T/C	—	benign
rs74662321	7:136,635,749	G/A	—	benign
rs116292369	7:136,635,776	G/T	—	benign
rs2350782	7:136,642,634	T/G	—	—
rs1824024	7:136,643,694	C/T	—	—
rs2061174	7:136,661,400	G/A	intron variant	—
rs79607027	7:136,676,942	C/T	—	likely benign
rs78848012	7:136,676,966	T/C	—	likely benign
rs36210736	7:136,676,988	T/C	—	benign
rs77494695	7:136,676,994	C/G	—	benign
rs1057524597	7:136,677,009	A/T	—	likely benign
rs1300851768	7:136,677,010	T/G	—	likely benign
rs324640	7:136,688,996	G/T	—	—
rs324650	7:136,693,661	T/A	intron variant	—
rs17168883	7:136,699,239	T/C	—	likely benign
rs324651	7:136,699,261	G/T	—	benign
rs141936929	7:136,699,365	T/C	—	likely benign
rs17168888	7:136,699,380	G/T	—	likely benign
rs2536203139	7:136,699,614	T/A	—	uncertain significance
rs745612214	7:136,699,620	A/G	—	uncertain significance
rs377626973	7:136,699,646	C/T	—	likely benign
rs1805069679	7:136,699,656	C/A	—	uncertain significance
rs771580504	7:136,699,659	G/A	—	uncertain significance
rs1441209174	7:136,699,666	T/C	—	likely benign
rs1057518509	7:136,699,679	G/A	—	uncertain significance
rs1805074915	7:136,699,713	G/T	—	uncertain significance
rs758540579	7:136,699,718	G/T	—	uncertain significance
rs2536203993	7:136,699,727	A/T	—	uncertain significance
rs2536204007	7:136,699,728	T/A	—	uncertain significance
rs1269385852	7:136,699,732	G/C	—	likely benign
rs144511065	7:136,699,762	C/T	—	likely benign
rs1011147170	7:136,699,766	C/T	—	uncertain significance
rs143842239	7:136,699,781	G/A	—	uncertain significance
rs2131131008	7:136,699,783	C/T	—	likely benign
rs2131131055	7:136,699,792	C/T	—	likely benign
rs760443842	7:136,699,798	A/G	—	benign
rs770495131	7:136,699,825	C/T	—	likely benign
rs11773032	7:136,699,829	G/A	—	uncertain significance
rs777079094	7:136,699,831	T/C	—	likely benign
rs1440850408	7:136,699,839	C/G	—	uncertain significance
rs760006520	7:136,699,846	C/T	—	likely benign
rs1192304125	7:136,699,859	T/G	—	uncertain significance
rs1435140915	7:136,699,868	A/G	—	uncertain significance
rs764299494	7:136,699,869	T/C	—	uncertain significance
rs1325393510	7:136,699,960	C/T	—	likely benign
rs2536205263	7:136,699,963	C/T	—	likely benign
rs1271788430	7:136,699,969	T/C	—	likely benign
rs375980850	7:136,699,996	T/C	—	likely benign
rs2536205400	7:136,699,997	C/G	—	uncertain significance
rs748172206	7:136,700,015	C/T	—	uncertain significance
rs1446523872	7:136,700,016	G/A	—	uncertain significance
rs2536205565	7:136,700,027	A/G	—	uncertain significance
rs757844531	7:136,700,028	T/A	—	uncertain significance
rs142493466	7:136,700,038	G/A	—	uncertain significance
rs2131132038	7:136,700,066	T/G	—	uncertain significance
rs148163637	7:136,700,068	C/T	—	benign
rs1383738640	7:136,700,069	A/G	—	uncertain significance
rs975508576	7:136,700,092	C/T	—	likely benign
rs2131132222	7:136,700,098	G/T	—	uncertain significance
rs1805100961	7:136,700,113	G/C	—	likely benign
rs2536206094	7:136,700,114	G/A	—	uncertain significance
rs576281726	7:136,700,137	G/T	—	uncertain significance
rs1265117293	7:136,700,144	A/C	—	uncertain significance
rs150934226	7:136,700,149	G/A	—	likely benign
rs141951417	7:136,700,161	T/C	—	benign
rs1394629702	7:136,700,181	C/T	—	uncertain significance
rs777593546	7:136,700,182	G/A	—	likely benign
rs1293483630	7:136,700,188	T/C	—	likely benign
rs1805107459	7:136,700,189	G/A	—	uncertain significance
rs746491894	7:136,700,191	A/C	—	likely benign
rs558678081	7:136,700,206	A/G	—	benign
rs769572164	7:136,700,209	G/A	—	likely benign
rs141382037	7:136,700,230	T/C	—	likely benign
rs1196291053	7:136,700,234	C/T	—	uncertain significance
rs1563128628	7:136,700,241	C/T	—	uncertain significance
rs774760812	7:136,700,244	G/A	—	uncertain significance
rs2536206941	7:136,700,250	G/A	—	uncertain significance
rs753168342	7:136,700,251	C/T	—	likely benign
rs2131132940	7:136,700,257	C/T	—	likely benign
rs1418067403	7:136,700,261	A/G	—	uncertain significance
rs2131132962	7:136,700,264	A/G	—	uncertain significance
rs2536207063	7:136,700,272	C/G	—	likely benign
rs2536207100	7:136,700,281	G/C	—	uncertain significance
rs1161870506	7:136,700,285	G/A	—	uncertain significance
rs143952141	7:136,700,286	T/A	—	conflicting classifications of pathogenicity
rs760821552	7:136,700,292	A/G	—	uncertain significance
rs762688022	7:136,700,298	A/G	—	uncertain significance
rs764065651	7:136,700,300	C/A	—	uncertain significance
rs76394680	7:136,700,303	G/A	—	likely benign

Showing 100 of 181 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.