Canonical Allele Identifier: CA658761308

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947372_150947375dup , CM000669.2:g.150947372_150947375dup	GRCh38
NC_000007.13:g.150644460_150644463dup , CM000669.1:g.150644460_150644463dup	GRCh37
NC_000007.12:g.150275393_150275396dup	NCBI36
NG_008916.1:g.35553_35556dup , LRG_288:g.35553_35556dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3939_3942dup
ENST00000262186.10:c.3106_3109dup MANE Select	ENSP00000262186.5:p.Asp1037GlyfsTer?
ENST00000330883.9:c.2086_2089dup	ENSP00000328531.4:p.Asp697GlyfsTer?
ENST00000262186.9:c.3106_3109dup	ENSP00000262186.5:p.Asp1037GlyfsTer?
ENST00000330883.8:c.2086_2089dup	ENSP00000328531.4:p.Asp697GlyfsTer?
NM_000238.3:c.3106_3109dup , LRG_288t1:c.3106_3109dup	NP_000229.1:p.Asp1037GlyfsTer?
NM_172057.2:c.2086_2089dup , LRG_288t3:c.2086_2089dup	NP_742054.1:p.Asp697GlyfsTer?
XM_011516185.1:c.2806_2809dup	XP_011514487.1:p.Asp937GlyfsTer?
XM_011516185.2:c.2806_2809dup	XP_011514487.1:p.Asp937GlyfsTer?
XM_017012195.1:c.2956_2959dup	XP_016867684.1:p.Asp987GlyfsTer?
XM_017012196.1:c.2929_2932dup	XP_016867685.1:p.Asp978GlyfsTer?
NM_000238.4:c.3106_3109dup MANE Select	NP_000229.1:p.Asp1037GlyfsTer?
NM_172057.3:c.2086_2089dup	NP_742054.1:p.Asp697GlyfsTer?