Canonical Allele Identifier: CA1752418939

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958554_150958555delinsCG , CM000669.2:g.150958554_150958555delinsCG	GRCh38
NC_000007.13:g.150655642_150655643delinsCG , CM000669.1:g.150655642_150655643delinsCG	GRCh37
NC_000007.12:g.150286575_150286576delinsCG	NCBI36
NG_008916.1:g.24372_24373delinsCG , LRG_288:g.24372_24373delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1306-53_1306-52delinsCG
ENST00000262186.10:c.473-53_473-52delinsCG MANE Select	ENSP00000262186.5:n.473-53_473-52delinsCG
ENST00000262186.9:c.473-53_473-52delinsCG	ENSP00000262186.5:n.473-53_473-52delinsCG
ENST00000430723.4:c.235-163_235-162delinsCG	ENSP00000387657.4:n.235-163_235-162delinsCG
ENST00000532957.5:n.696-53_696-52delinsCG
NM_000238.3:c.473-53_473-52delinsCG , LRG_288t1:c.473-53_473-52delinsCG	NP_000229.1:n.473-53_473-52delinsCG
NM_172056.2:c.473-53_473-52delinsCG , LRG_288t2:c.473-53_473-52delinsCG	NP_742053.1:n.473-53_473-52delinsCG
XM_011516185.1:c.173-53_173-52delinsCG	XP_011514487.1:n.173-53_173-52delinsCG
XM_011516186.1:c.473-53_473-52delinsCG	XP_011514488.1:n.473-53_473-52delinsCG
XM_011516185.2:c.173-53_173-52delinsCG	XP_011514487.1:n.173-53_173-52delinsCG
XM_011516186.3:c.473-53_473-52delinsCG	XP_011514488.1:n.473-53_473-52delinsCG
XM_017012195.1:c.323-53_323-52delinsCG	XP_016867684.1:n.323-53_323-52delinsCG
XM_017012196.1:c.296-53_296-52delinsCG	XP_016867685.1:n.296-53_296-52delinsCG
NM_000238.4:c.473-53_473-52delinsCG MANE Select	NP_000229.1:n.473-53_473-52delinsCG