Canonical Allele Identifier: CA1752409683

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951529G= , CM000669.2:g.150951529G=	GRCh38
NC_000007.13:g.150648617G= , CM000669.1:g.150648617G=	GRCh37
NC_000007.12:g.150279550G=	NCBI36
NG_008916.1:g.31398C= , LRG_288:g.31398C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1162C=
ENST00000684241.1:n.2697C=
ENST00000262186.10:c.1864C= MANE Select	ENSP00000262186.5:p.Leu622=
ENST00000330883.9:c.844C=	ENSP00000328531.4:p.Leu282=
ENST00000262186.9:c.1864C=	ENSP00000262186.5:p.Leu622=
ENST00000330883.8:c.844C=	ENSP00000328531.4:p.Leu282=
ENST00000430723.4:c.1516C=	ENSP00000387657.4:p.Leu506=
ENST00000461280.1:n.1151C=
ENST00000473610.5:n.1169C=
ENST00000532957.5:n.2087C=
NM_000238.3:c.1864C= , LRG_288t1:c.1864C=	NP_000229.1:p.Leu622=
NM_001204798.1:c.844C=	NP_001191727.1:p.Leu282=
NM_172056.2:c.1864C= , LRG_288t2:c.1864C=	NP_742053.1:p.Leu622=
NM_172057.2:c.844C= , LRG_288t3:c.844C=	NP_742054.1:p.Leu282=
XM_011516185.1:c.1564C=	XP_011514487.1:p.Leu522=
XM_011516186.1:c.1864C=	XP_011514488.1:p.Leu622=
XM_011516185.2:c.1564C=	XP_011514487.1:p.Leu522=
XM_011516186.3:c.1864C=	XP_011514488.1:p.Leu622=
XM_017012195.1:c.1714C=	XP_016867684.1:p.Leu572=
XM_017012196.1:c.1687C=	XP_016867685.1:p.Leu563=
NM_000238.4:c.1864C= MANE Select	NP_000229.1:p.Leu622=
NM_001204798.2:c.844C=	NP_001191727.1:p.Leu282=
NM_172057.3:c.844C=	NP_742054.1:p.Leu282=