Canonical Allele Identifier: CA1752432748

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949928T= , CM000669.2:g.150949928T=	GRCh38
NC_000007.13:g.150647016T= , CM000669.1:g.150647016T=	GRCh37
NC_000007.12:g.150277949T=	NCBI36
NG_008916.1:g.32999A= , LRG_288:g.32999A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1936A=
ENST00000684241.1:n.3231+240A=
ENST00000262186.10:c.2398+240A= MANE Select	ENSP00000262186.5:n.2398+240A=
ENST00000330883.9:c.1378+240A=	ENSP00000328531.4:n.1378+240A=
ENST00000262186.9:c.2398+240A=	ENSP00000262186.5:n.2398+240A=
ENST00000330883.8:c.1378+240A=	ENSP00000328531.4:n.1378+240A=
ENST00000430723.4:c.2290A=	ENSP00000387657.4:p.Lys764=
ENST00000461280.1:n.1925A=
ENST00000473610.5:n.2270A=
ENST00000532957.5:n.2861A=
NM_000238.3:c.2398+240A= , LRG_288t1:c.2398+240A=	NP_000229.1:n.2398+240A=
NM_001204798.1:c.1618A=	NP_001191727.1:p.Lys540=
NM_172056.2:c.2638A= , LRG_288t2:c.2638A=	NP_742053.1:p.Lys880=
NM_172057.2:c.1378+240A= , LRG_288t3:c.1378+240A=	NP_742054.1:n.1378+240A=
XM_011516185.1:c.2098+240A=	XP_011514487.1:n.2098+240A=
XM_011516186.1:c.2398+240A=	XP_011514488.1:n.2398+240A=
XM_011516185.2:c.2098+240A=	XP_011514487.1:n.2098+240A=
XM_011516186.3:c.2398+240A=	XP_011514488.1:n.2398+240A=
XM_017012195.1:c.2248+240A=	XP_016867684.1:n.2248+240A=
XM_017012196.1:c.2221+240A=	XP_016867685.1:n.2221+240A=
NM_000238.4:c.2398+240A= MANE Select	NP_000229.1:n.2398+240A=
NM_001204798.2:c.1618A=	NP_001191727.1:p.Lys540=
NM_172057.3:c.1378+240A=	NP_742054.1:n.1378+240A=