Canonical Allele Identifier: CA2685600757

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949032dup , CM000669.2:g.150949032dup	GRCh38
NC_000007.13:g.150646120dup , CM000669.1:g.150646120dup	GRCh37
NC_000007.12:g.150277053dup	NCBI36
NG_008916.1:g.33898dup , LRG_288:g.33898dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3252dup
ENST00000262186.10:c.2419dup MANE Select	ENSP00000262186.5:p.Glu807GlyfsTer23
ENST00000330883.9:c.1399dup	ENSP00000328531.4:p.Glu467GlyfsTer23
ENST00000262186.9:c.2419dup	ENSP00000262186.5:p.Glu807GlyfsTer23
ENST00000330883.8:c.1399dup	ENSP00000328531.4:p.Glu467GlyfsTer23
NM_000238.3:c.2419dup , LRG_288t1:c.2419dup	NP_000229.1:p.Glu807GlyfsTer23
NM_172057.2:c.1399dup , LRG_288t3:c.1399dup	NP_742054.1:p.Glu467GlyfsTer23
XM_011516185.1:c.2119dup	XP_011514487.1:p.Glu707GlyfsTer23
XM_011516186.1:c.2419dup	XP_011514488.1:p.Glu807GlyfsTer23
XM_011516185.2:c.2119dup	XP_011514487.1:p.Glu707GlyfsTer23
XM_011516186.3:c.2419dup	XP_011514488.1:p.Glu807GlyfsTer23
XM_017012195.1:c.2269dup	XP_016867684.1:p.Glu757GlyfsTer23
XM_017012196.1:c.2242dup	XP_016867685.1:p.Glu748GlyfsTer23
NM_000238.4:c.2419dup MANE Select	NP_000229.1:p.Glu807GlyfsTer23
NM_172057.3:c.1399dup	NP_742054.1:p.Glu467GlyfsTer23