Canonical Allele Identifier: CA1752410269

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951655C= , CM000669.2:g.150951655C=	GRCh38
NC_000007.13:g.150648743C= , CM000669.1:g.150648743C=	GRCh37
NC_000007.12:g.150279676C=	NCBI36
NG_008916.1:g.31272G= , LRG_288:g.31272G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1036G=
ENST00000684241.1:n.2571G=
ENST00000262186.10:c.1738G= MANE Select	ENSP00000262186.5:p.Asp580=
ENST00000330883.9:c.718G=	ENSP00000328531.4:p.Asp240=
ENST00000262186.9:c.1738G=	ENSP00000262186.5:p.Asp580=
ENST00000330883.8:c.718G=	ENSP00000328531.4:p.Asp240=
ENST00000430723.4:c.1390G=	ENSP00000387657.4:p.Asp464=
ENST00000461280.1:n.1025G=
ENST00000473610.5:n.1043G=
ENST00000532957.5:n.1961G=
NM_000238.3:c.1738G= , LRG_288t1:c.1738G=	NP_000229.1:p.Asp580=
NM_001204798.1:c.718G=	NP_001191727.1:p.Asp240=
NM_172056.2:c.1738G= , LRG_288t2:c.1738G=	NP_742053.1:p.Asp580=
NM_172057.2:c.718G= , LRG_288t3:c.718G=	NP_742054.1:p.Asp240=
XM_011516185.1:c.1438G=	XP_011514487.1:p.Asp480=
XM_011516186.1:c.1738G=	XP_011514488.1:p.Asp580=
XM_011516185.2:c.1438G=	XP_011514487.1:p.Asp480=
XM_011516186.3:c.1738G=	XP_011514488.1:p.Asp580=
XM_017012195.1:c.1588G=	XP_016867684.1:p.Asp530=
XM_017012196.1:c.1561G=	XP_016867685.1:p.Asp521=
NM_000238.4:c.1738G= MANE Select	NP_000229.1:p.Asp580=
NM_001204798.2:c.718G=	NP_001191727.1:p.Asp240=
NM_172057.3:c.718G=	NP_742054.1:p.Asp240=