Canonical Allele Identifier: CA1752419017

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958614_150958615delinsAC , CM000669.2:g.150958614_150958615delinsAC	GRCh38
NC_000007.13:g.150655702_150655703delinsAC , CM000669.1:g.150655702_150655703delinsAC	GRCh37
NC_000007.12:g.150286635_150286636delinsAC	NCBI36
NG_008916.1:g.24312_24313delinsGT , LRG_288:g.24312_24313delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-113_1306-112delinsGT
ENST00000262186.10:c.473-113_473-112delinsGT MANE Select	ENSP00000262186.5:n.473-113_473-112delinsGT
ENST00000262186.9:c.473-113_473-112delinsGT	ENSP00000262186.5:n.473-113_473-112delinsGT
ENST00000430723.4:c.235-223_235-222delinsGT	ENSP00000387657.4:n.235-223_235-222delinsGT
ENST00000532957.5:n.696-113_696-112delinsGT
NM_000238.3:c.473-113_473-112delinsGT , LRG_288t1:c.473-113_473-112delinsGT	NP_000229.1:n.473-113_473-112delinsGT
NM_172056.2:c.473-113_473-112delinsGT , LRG_288t2:c.473-113_473-112delinsGT	NP_742053.1:n.473-113_473-112delinsGT
XM_011516185.1:c.173-113_173-112delinsGT	XP_011514487.1:n.173-113_173-112delinsGT
XM_011516186.1:c.473-113_473-112delinsGT	XP_011514488.1:n.473-113_473-112delinsGT
XM_011516185.2:c.173-113_173-112delinsGT	XP_011514487.1:n.173-113_173-112delinsGT
XM_011516186.3:c.473-113_473-112delinsGT	XP_011514488.1:n.473-113_473-112delinsGT
XM_017012195.1:c.323-113_323-112delinsGT	XP_016867684.1:n.323-113_323-112delinsGT
XM_017012196.1:c.296-113_296-112delinsGT	XP_016867685.1:n.296-113_296-112delinsGT
NM_000238.4:c.473-113_473-112delinsGT MANE Select	NP_000229.1:n.473-113_473-112delinsGT