Canonical Allele Identifier: CA2511849902

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959668_150959672del , CM000669.2:g.150959668_150959672del	GRCh38
NC_000007.13:g.150656756_150656760del , CM000669.1:g.150656756_150656760del	GRCh37
NC_000007.12:g.150287689_150287693del	NCBI36
NG_008916.1:g.23255_23259del , LRG_288:g.23255_23259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1205_1209del
ENST00000262186.10:c.372_376del MANE Select	ENSP00000262186.5:p.Met124IlefsTer19
ENST00000262186.9:c.372_376del	ENSP00000262186.5:p.Met124IlefsTer19
ENST00000430723.4:c.195_199del	ENSP00000387657.4:p.Met65IlefsTer?
ENST00000532957.5:n.595_599del
NM_000238.3:c.372_376del , LRG_288t1:c.372_376del	NP_000229.1:p.Met124IlefsTer19
NM_172056.2:c.372_376del , LRG_288t2:c.372_376del	NP_742053.1:p.Met124IlefsTer19
XM_011516185.1:c.72_76del	XP_011514487.1:p.Met24IlefsTer19
XM_011516186.1:c.372_376del	XP_011514488.1:p.Met124IlefsTer19
XM_011516185.2:c.72_76del	XP_011514487.1:p.Met24IlefsTer19
XM_011516186.3:c.372_376del	XP_011514488.1:p.Met124IlefsTer19
XM_017012195.1:c.222_226del	XP_016867684.1:p.Met74IlefsTer19
XM_017012196.1:c.195_199del	XP_016867685.1:p.Met65IlefsTer19
NM_000238.4:c.372_376del MANE Select	NP_000229.1:p.Met124IlefsTer19