Canonical Allele Identifier: CA1752428768

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947385_150947386delinsCG , CM000669.2:g.150947385_150947386delinsCG	GRCh38
NC_000007.13:g.150644473_150644474delinsCG , CM000669.1:g.150644473_150644474delinsCG	GRCh37
NC_000007.12:g.150275406_150275407delinsCG	NCBI36
NG_008916.1:g.35541_35542delinsCG , LRG_288:g.35541_35542delinsCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3927_3928delinsCG
ENST00000262186.10:c.3094_3095delinsCG MANE Select	ENSP00000262186.5:p.Arg1032=
ENST00000330883.9:c.2074_2075delinsCG	ENSP00000328531.4:p.Arg692=
ENST00000262186.9:c.3094_3095delinsCG	ENSP00000262186.5:p.Arg1032=
ENST00000330883.8:c.2074_2075delinsCG	ENSP00000328531.4:p.Arg692=
NM_000238.3:c.3094_3095delinsCG , LRG_288t1:c.3094_3095delinsCG	NP_000229.1:p.Arg1032=
NM_172057.2:c.2074_2075delinsCG , LRG_288t3:c.2074_2075delinsCG	NP_742054.1:p.Arg692=
XM_011516185.1:c.2794_2795delinsCG	XP_011514487.1:p.Arg932=
XM_011516185.2:c.2794_2795delinsCG	XP_011514487.1:p.Arg932=
XM_017012195.1:c.2944_2945delinsCG	XP_016867684.1:p.Arg982=
XM_017012196.1:c.2917_2918delinsCG	XP_016867685.1:p.Arg973=
NM_000238.4:c.3094_3095delinsCG MANE Select	NP_000229.1:p.Arg1032=
NM_172057.3:c.2074_2075delinsCG	NP_742054.1:p.Arg692=