Canonical Allele Identifier: CA458871124

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947775G>A , CM000669.2:g.150947775G>A	GRCh38
NC_000007.13:g.150644863G>A , CM000669.1:g.150644863G>A	GRCh37
NC_000007.12:g.150275796G>A	NCBI36
NG_008916.1:g.35152C>T , LRG_288:g.35152C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2796C>T MANE Select	NP_000229.1:p.Ser932=
ENST00000262186.10:c.2796C>T MANE Select	ENSP00000262186.5:p.Ser932=
NM_000238.3:c.2796C>T , LRG_288t1:c.2796C>T	NP_000229.1:p.Ser932=
NM_172057.2:c.1776C>T , LRG_288t3:c.1776C>T	NP_742054.1:p.Ser592=
NM_172057.3:c.1776C>T	NP_742054.1:p.Ser592=
ENST00000262186.9:c.2796C>T	ENSP00000262186.5:p.Ser932=
ENST00000330883.8:c.1776C>T	ENSP00000328531.4:p.Ser592=
ENST00000330883.9:c.1776C>T	ENSP00000328531.4:p.Ser592=
ENST00000684241.1:n.3629C>T
XM_011516185.1:c.2496C>T	XP_011514487.1:p.Ser832=
XM_011516185.2:c.2496C>T	XP_011514487.1:p.Ser832=
XM_011516186.1:c.2693-84C>T	XP_011514488.1:n.2693-84C>T
XM_011516186.3:c.2693-84C>T	XP_011514488.1:n.2693-84C>T
XM_017012195.1:c.2646C>T	XP_016867684.1:p.Ser882=
XM_017012196.1:c.2619C>T	XP_016867685.1:p.Ser873=