Canonical Allele Identifier: CA1752417822

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958103A= , CM000669.2:g.150958103A=	GRCh38
NC_000007.13:g.150655191A= , CM000669.1:g.150655191A=	GRCh37
NC_000007.12:g.150286124A=	NCBI36
NG_008916.1:g.24824T= , LRG_288:g.24824T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.872T= MANE Select	NP_000229.1:p.Met291=
ENST00000262186.10:c.872T= MANE Select	ENSP00000262186.5:p.Met291=
NM_000238.3:c.872T= , LRG_288t1:c.872T=	NP_000229.1:p.Met291=
NM_172056.2:c.872T= , LRG_288t2:c.872T=	NP_742053.1:p.Met291=
ENST00000262186.9:c.872T=	ENSP00000262186.5:p.Met291=
ENST00000430723.4:c.524T=	ENSP00000387657.4:p.Met175=
ENST00000532957.5:n.1095T=
ENST00000684241.1:n.1705T=
XM_011516185.1:c.572T=	XP_011514487.1:p.Met191=
XM_011516185.2:c.572T=	XP_011514487.1:p.Met191=
XM_011516186.1:c.872T=	XP_011514488.1:p.Met291=
XM_011516186.3:c.872T=	XP_011514488.1:p.Met291=
XM_017012195.1:c.722T=	XP_016867684.1:p.Met241=
XM_017012196.1:c.695T=	XP_016867685.1:p.Met232=