Canonical Allele Identifier: CA072191

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958206_150958207delinsTG , CM000669.2:g.150958206_150958207delinsTG	GRCh38
NC_000007.13:g.150655294_150655295delinsTG , CM000669.1:g.150655294_150655295delinsTG	GRCh37
NC_000007.12:g.150286227_150286228delinsTG	NCBI36
NG_008916.1:g.24720_24721delinsCA , LRG_288:g.24720_24721delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1601_1602delinsCA
ENST00000262186.10:c.768_769delinsCA MANE Select	ENSP00000262186.5:p.Leu256=
ENST00000262186.9:c.768_769delinsCA	ENSP00000262186.5:p.Leu256=
ENST00000430723.4:c.420_421delinsCA	ENSP00000387657.4:p.Leu140=
ENST00000532957.5:n.991_992delinsCA
NM_000238.3:c.768_769delinsCA , LRG_288t1:c.768_769delinsCA	NP_000229.1:p.Leu256=
NM_172056.2:c.768_769delinsCA , LRG_288t2:c.768_769delinsCA	NP_742053.1:p.Leu256=
XM_011516185.1:c.468_469delinsCA	XP_011514487.1:p.Leu156=
XM_011516186.1:c.768_769delinsCA	XP_011514488.1:p.Leu256=
XM_011516185.2:c.468_469delinsCA	XP_011514487.1:p.Leu156=
XM_011516186.3:c.768_769delinsCA	XP_011514488.1:p.Leu256=
XM_017012195.1:c.618_619delinsCA	XP_016867684.1:p.Leu206=
XM_017012196.1:c.591_592delinsCA	XP_016867685.1:p.Leu197=
NM_000238.4:c.768_769delinsCA MANE Select	NP_000229.1:p.Leu256=