Canonical Allele Identifier: CA369862828

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958287C>A , CM000669.2:g.150958287C>A	GRCh38
NC_000007.13:g.150655375C>A , CM000669.1:g.150655375C>A	GRCh37
NC_000007.12:g.150286308C>A	NCBI36
NG_008916.1:g.24640G>T , LRG_288:g.24640G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.688G>T MANE Select	NP_000229.1:p.Glu230Ter
ENST00000262186.10:c.688G>T MANE Select	ENSP00000262186.5:p.Glu230Ter
NM_000238.3:c.688G>T , LRG_288t1:c.688G>T	NP_000229.1:p.Glu230Ter
NM_172056.2:c.688G>T , LRG_288t2:c.688G>T	NP_742053.1:p.Glu230Ter
ENST00000262186.9:c.688G>T	ENSP00000262186.5:p.Glu230Ter
ENST00000430723.4:c.340G>T	ENSP00000387657.4:p.Glu114Ter
ENST00000532957.5:n.911G>T
ENST00000684241.1:n.1521G>T
XM_011516185.1:c.388G>T	XP_011514487.1:p.Glu130Ter
XM_011516185.2:c.388G>T	XP_011514487.1:p.Glu130Ter
XM_011516186.1:c.688G>T	XP_011514488.1:p.Glu230Ter
XM_011516186.3:c.688G>T	XP_011514488.1:p.Glu230Ter
XM_017012195.1:c.538G>T	XP_016867684.1:p.Glu180Ter
XM_017012196.1:c.511G>T	XP_016867685.1:p.Glu171Ter