Canonical Allele Identifier: CA1752434322

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951036A= , CM000669.2:g.150951036A=	GRCh38
NC_000007.13:g.150648124A= , CM000669.1:g.150648124A=	GRCh37
NC_000007.12:g.150279057A=	NCBI36
NG_008916.1:g.31891T= , LRG_288:g.31891T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1328T=
ENST00000683359.1:n.154T=
ENST00000684241.1:n.2863T=
ENST00000262186.10:c.2030T= MANE Select	ENSP00000262186.5:p.Met677=
ENST00000330883.9:c.1010T=	ENSP00000328531.4:p.Met337=
ENST00000262186.9:c.2030T=	ENSP00000262186.5:p.Met677=
ENST00000330883.8:c.1010T=	ENSP00000328531.4:p.Met337=
ENST00000430723.4:c.1682T=	ENSP00000387657.4:p.Met561=
ENST00000461280.1:n.1317T=
ENST00000473610.5:n.1662T=
ENST00000532957.5:n.2253T=
NM_000238.3:c.2030T= , LRG_288t1:c.2030T=	NP_000229.1:p.Met677=
NM_001204798.1:c.1010T=	NP_001191727.1:p.Met337=
NM_172056.2:c.2030T= , LRG_288t2:c.2030T=	NP_742053.1:p.Met677=
NM_172057.2:c.1010T= , LRG_288t3:c.1010T=	NP_742054.1:p.Met337=
XM_011516185.1:c.1730T=	XP_011514487.1:p.Met577=
XM_011516186.1:c.2030T=	XP_011514488.1:p.Met677=
XM_011516185.2:c.1730T=	XP_011514487.1:p.Met577=
XM_011516186.3:c.2030T=	XP_011514488.1:p.Met677=
XM_017012195.1:c.1880T=	XP_016867684.1:p.Met627=
XM_017012196.1:c.1853T=	XP_016867685.1:p.Met618=
NM_000238.4:c.2030T= MANE Select	NP_000229.1:p.Met677=
NM_001204798.2:c.1010T=	NP_001191727.1:p.Met337=
NM_172057.3:c.1010T=	NP_742054.1:p.Met337=