Canonical Allele Identifier: CA1752410082

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951593G= , CM000669.2:g.150951593G=	GRCh38
NC_000007.13:g.150648681G= , CM000669.1:g.150648681G=	GRCh37
NC_000007.12:g.150279614G=	NCBI36
NG_008916.1:g.31334C= , LRG_288:g.31334C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1098C=
ENST00000684241.1:n.2633C=
ENST00000262186.10:c.1800C= MANE Select	ENSP00000262186.5:p.Ser600=
ENST00000330883.9:c.780C=	ENSP00000328531.4:p.Ser260=
ENST00000262186.9:c.1800C=	ENSP00000262186.5:p.Ser600=
ENST00000330883.8:c.780C=	ENSP00000328531.4:p.Ser260=
ENST00000430723.4:c.1452C=	ENSP00000387657.4:p.Ser484=
ENST00000461280.1:n.1087C=
ENST00000473610.5:n.1105C=
ENST00000532957.5:n.2023C=
NM_000238.3:c.1800C= , LRG_288t1:c.1800C=	NP_000229.1:p.Ser600=
NM_001204798.1:c.780C=	NP_001191727.1:p.Ser260=
NM_172056.2:c.1800C= , LRG_288t2:c.1800C=	NP_742053.1:p.Ser600=
NM_172057.2:c.780C= , LRG_288t3:c.780C=	NP_742054.1:p.Ser260=
XM_011516185.1:c.1500C=	XP_011514487.1:p.Ser500=
XM_011516186.1:c.1800C=	XP_011514488.1:p.Ser600=
XM_011516185.2:c.1500C=	XP_011514487.1:p.Ser500=
XM_011516186.3:c.1800C=	XP_011514488.1:p.Ser600=
XM_017012195.1:c.1650C=	XP_016867684.1:p.Ser550=
XM_017012196.1:c.1623C=	XP_016867685.1:p.Ser541=
NM_000238.4:c.1800C= MANE Select	NP_000229.1:p.Ser600=
NM_001204798.2:c.780C=	NP_001191727.1:p.Ser260=
NM_172057.3:c.780C=	NP_742054.1:p.Ser260=