Canonical Allele Identifier: CA1752418379

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958305_150958310delinsCTGCCA , CM000669.2:g.150958305_150958310delinsCTGCCA	GRCh38
NC_000007.13:g.150655393_150655398delinsCTGCCA , CM000669.1:g.150655393_150655398delinsCTGCCA	GRCh37
NC_000007.12:g.150286326_150286331delinsCTGCCA	NCBI36
NG_008916.1:g.24617_24622delinsTGGCAG , LRG_288:g.24617_24622delinsTGGCAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1498_1503delinsTGGCAG
ENST00000262186.10:c.665_670delinsTGGCAG MANE Select	ENSP00000262186.5:p.Val222=
ENST00000262186.9:c.665_670delinsTGGCAG	ENSP00000262186.5:p.Val222=
ENST00000430723.4:c.317_322delinsTGGCAG	ENSP00000387657.4:p.Val106=
ENST00000532957.5:n.888_893delinsTGGCAG
NM_000238.3:c.665_670delinsTGGCAG , LRG_288t1:c.665_670delinsTGGCAG	NP_000229.1:p.Val222=
NM_172056.2:c.665_670delinsTGGCAG , LRG_288t2:c.665_670delinsTGGCAG	NP_742053.1:p.Val222=
XM_011516185.1:c.365_370delinsTGGCAG	XP_011514487.1:p.Val122=
XM_011516186.1:c.665_670delinsTGGCAG	XP_011514488.1:p.Val222=
XM_011516185.2:c.365_370delinsTGGCAG	XP_011514487.1:p.Val122=
XM_011516186.3:c.665_670delinsTGGCAG	XP_011514488.1:p.Val222=
XM_017012195.1:c.515_520delinsTGGCAG	XP_016867684.1:p.Val172=
XM_017012196.1:c.488_493delinsTGGCAG	XP_016867685.1:p.Val163=
NM_000238.4:c.665_670delinsTGGCAG MANE Select	NP_000229.1:p.Val222=