Canonical Allele Identifier: CA1752410521

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951732A= , CM000669.2:g.150951732A=	GRCh38
NC_000007.13:g.150648820A= , CM000669.1:g.150648820A=	GRCh37
NC_000007.12:g.150279753A=	NCBI36
NG_008916.1:g.31195T= , LRG_288:g.31195T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.959T=
ENST00000684116.1:n.554T=
ENST00000684241.1:n.2494T=
ENST00000262186.10:c.1661T= MANE Select	ENSP00000262186.5:p.Met554=
ENST00000330883.9:c.641T=	ENSP00000328531.4:p.Met214=
ENST00000262186.9:c.1661T=	ENSP00000262186.5:p.Met554=
ENST00000330883.8:c.641T=	ENSP00000328531.4:p.Met214=
ENST00000430723.4:c.1313T=	ENSP00000387657.4:p.Met438=
ENST00000461280.1:n.948T=
ENST00000473610.5:n.966T=
ENST00000532957.5:n.1884T=
NM_000238.3:c.1661T= , LRG_288t1:c.1661T=	NP_000229.1:p.Met554=
NM_001204798.1:c.641T=	NP_001191727.1:p.Met214=
NM_172056.2:c.1661T= , LRG_288t2:c.1661T=	NP_742053.1:p.Met554=
NM_172057.2:c.641T= , LRG_288t3:c.641T=	NP_742054.1:p.Met214=
XM_011516185.1:c.1361T=	XP_011514487.1:p.Met454=
XM_011516186.1:c.1661T=	XP_011514488.1:p.Met554=
XM_011516185.2:c.1361T=	XP_011514487.1:p.Met454=
XM_011516186.3:c.1661T=	XP_011514488.1:p.Met554=
XM_017012195.1:c.1511T=	XP_016867684.1:p.Met504=
XM_017012196.1:c.1484T=	XP_016867685.1:p.Met495=
NM_000238.4:c.1661T= MANE Select	NP_000229.1:p.Met554=
NM_001204798.2:c.641T=	NP_001191727.1:p.Met214=
NM_172057.3:c.641T=	NP_742054.1:p.Met214=