Canonical Allele Identifier: CA1752409774

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951545G= , CM000669.2:g.150951545G=	GRCh38
NC_000007.13:g.150648633G= , CM000669.1:g.150648633G=	GRCh37
NC_000007.12:g.150279566G=	NCBI36
NG_008916.1:g.31382C= , LRG_288:g.31382C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1146C=
ENST00000684241.1:n.2681C=
ENST00000262186.10:c.1848C= MANE Select	ENSP00000262186.5:p.Tyr616=
ENST00000330883.9:c.828C=	ENSP00000328531.4:p.Tyr276=
ENST00000262186.9:c.1848C=	ENSP00000262186.5:p.Tyr616=
ENST00000330883.8:c.828C=	ENSP00000328531.4:p.Tyr276=
ENST00000430723.4:c.1500C=	ENSP00000387657.4:p.Tyr500=
ENST00000461280.1:n.1135C=
ENST00000473610.5:n.1153C=
ENST00000532957.5:n.2071C=
NM_000238.3:c.1848C= , LRG_288t1:c.1848C=	NP_000229.1:p.Tyr616=
NM_001204798.1:c.828C=	NP_001191727.1:p.Tyr276=
NM_172056.2:c.1848C= , LRG_288t2:c.1848C=	NP_742053.1:p.Tyr616=
NM_172057.2:c.828C= , LRG_288t3:c.828C=	NP_742054.1:p.Tyr276=
XM_011516185.1:c.1548C=	XP_011514487.1:p.Tyr516=
XM_011516186.1:c.1848C=	XP_011514488.1:p.Tyr616=
XM_011516185.2:c.1548C=	XP_011514487.1:p.Tyr516=
XM_011516186.3:c.1848C=	XP_011514488.1:p.Tyr616=
XM_017012195.1:c.1698C=	XP_016867684.1:p.Tyr566=
XM_017012196.1:c.1671C=	XP_016867685.1:p.Tyr557=
NM_000238.4:c.1848C= MANE Select	NP_000229.1:p.Tyr616=
NM_001204798.2:c.828C=	NP_001191727.1:p.Tyr276=
NM_172057.3:c.828C=	NP_742054.1:p.Tyr276=