Canonical Allele Identifier: CA1752428649

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947376_150947377delinsCG , CM000669.2:g.150947376_150947377delinsCG	GRCh38
NC_000007.13:g.150644464_150644465delinsCG , CM000669.1:g.150644464_150644465delinsCG	GRCh37
NC_000007.12:g.150275397_150275398delinsCG	NCBI36
NG_008916.1:g.35550_35551delinsCG , LRG_288:g.35550_35551delinsCG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3936_3937delinsCG
ENST00000262186.10:c.3103_3104delinsCG MANE Select	ENSP00000262186.5:p.Arg1035=
ENST00000330883.9:c.2083_2084delinsCG	ENSP00000328531.4:p.Arg695=
ENST00000262186.9:c.3103_3104delinsCG	ENSP00000262186.5:p.Arg1035=
ENST00000330883.8:c.2083_2084delinsCG	ENSP00000328531.4:p.Arg695=
NM_000238.3:c.3103_3104delinsCG , LRG_288t1:c.3103_3104delinsCG	NP_000229.1:p.Arg1035=
NM_172057.2:c.2083_2084delinsCG , LRG_288t3:c.2083_2084delinsCG	NP_742054.1:p.Arg695=
XM_011516185.1:c.2803_2804delinsCG	XP_011514487.1:p.Arg935=
XM_011516185.2:c.2803_2804delinsCG	XP_011514487.1:p.Arg935=
XM_017012195.1:c.2953_2954delinsCG	XP_016867684.1:p.Arg985=
XM_017012196.1:c.2926_2927delinsCG	XP_016867685.1:p.Arg976=
NM_000238.4:c.3103_3104delinsCG MANE Select	NP_000229.1:p.Arg1035=
NM_172057.3:c.2083_2084delinsCG	NP_742054.1:p.Arg695=