Canonical Allele Identifier: CA1752430356

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947806_150947807delinsCG , CM000669.2:g.150947806_150947807delinsCG	GRCh38
NC_000007.13:g.150644894_150644895delinsCG , CM000669.1:g.150644894_150644895delinsCG	GRCh37
NC_000007.12:g.150275827_150275828delinsCG	NCBI36
NG_008916.1:g.35120_35121delinsCG , LRG_288:g.35120_35121delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3597_3598delinsCG
ENST00000262186.10:c.2764_2765delinsCG MANE Select	ENSP00000262186.5:p.Arg922=
ENST00000330883.9:c.1744_1745delinsCG	ENSP00000328531.4:p.Arg582=
ENST00000262186.9:c.2764_2765delinsCG	ENSP00000262186.5:p.Arg922=
ENST00000330883.8:c.1744_1745delinsCG	ENSP00000328531.4:p.Arg582=
NM_000238.3:c.2764_2765delinsCG , LRG_288t1:c.2764_2765delinsCG	NP_000229.1:p.Arg922=
NM_172057.2:c.1744_1745delinsCG , LRG_288t3:c.1744_1745delinsCG	NP_742054.1:p.Arg582=
XM_011516185.1:c.2464_2465delinsCG	XP_011514487.1:p.Arg822=
XM_011516186.1:c.2693-116_2693-115delinsCG	XP_011514488.1:n.2693-116_2693-115delinsCG
XM_011516185.2:c.2464_2465delinsCG	XP_011514487.1:p.Arg822=
XM_011516186.3:c.2693-116_2693-115delinsCG	XP_011514488.1:n.2693-116_2693-115delinsCG
XM_017012195.1:c.2614_2615delinsCG	XP_016867684.1:p.Arg872=
XM_017012196.1:c.2587_2588delinsCG	XP_016867685.1:p.Arg863=
NM_000238.4:c.2764_2765delinsCG MANE Select	NP_000229.1:p.Arg922=
NM_172057.3:c.1744_1745delinsCG	NP_742054.1:p.Arg582=