Canonical Allele Identifier: CA1752418689

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958430G= , CM000669.2:g.150958430G=	GRCh38
NC_000007.13:g.150655518G= , CM000669.1:g.150655518G=	GRCh37
NC_000007.12:g.150286451G=	NCBI36
NG_008916.1:g.24497C= , LRG_288:g.24497C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1378C=
ENST00000262186.10:c.545C= MANE Select	ENSP00000262186.5:p.Ser182=
ENST00000262186.9:c.545C=	ENSP00000262186.5:p.Ser182=
ENST00000430723.4:c.235-38C=	ENSP00000387657.4:n.235-38C=
ENST00000532957.5:n.768C=
NM_000238.3:c.545C= , LRG_288t1:c.545C=	NP_000229.1:p.Ser182=
NM_172056.2:c.545C= , LRG_288t2:c.545C=	NP_742053.1:p.Ser182=
XM_011516185.1:c.245C=	XP_011514487.1:p.Ser82=
XM_011516186.1:c.545C=	XP_011514488.1:p.Ser182=
XM_011516185.2:c.245C=	XP_011514487.1:p.Ser82=
XM_011516186.3:c.545C=	XP_011514488.1:p.Ser182=
XM_017012195.1:c.395C=	XP_016867684.1:p.Ser132=
XM_017012196.1:c.368C=	XP_016867685.1:p.Ser123=
NM_000238.4:c.545C= MANE Select	NP_000229.1:p.Ser182=