Canonical Allele Identifier: CA1752431327

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948459_150948460delinsTG , CM000669.2:g.150948459_150948460delinsTG	GRCh38
NC_000007.13:g.150645547_150645548delinsTG , CM000669.1:g.150645547_150645548delinsTG	GRCh37
NC_000007.12:g.150276480_150276481delinsTG	NCBI36
NG_008916.1:g.34467_34468delinsCA , LRG_288:g.34467_34468delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3509_3510delinsCA
ENST00000262186.10:c.2676_2677delinsCA MANE Select	ENSP00000262186.5:p.Arg892=
ENST00000330883.9:c.1656_1657delinsCA	ENSP00000328531.4:p.Arg552=
ENST00000262186.9:c.2676_2677delinsCA	ENSP00000262186.5:p.Arg892=
ENST00000330883.8:c.1656_1657delinsCA	ENSP00000328531.4:p.Arg552=
NM_000238.3:c.2676_2677delinsCA , LRG_288t1:c.2676_2677delinsCA	NP_000229.1:p.Arg892=
NM_172057.2:c.1656_1657delinsCA , LRG_288t3:c.1656_1657delinsCA	NP_742054.1:p.Arg552=
XM_011516185.1:c.2376_2377delinsCA	XP_011514487.1:p.Arg792=
XM_011516186.1:c.2676_2677delinsCA	XP_011514488.1:p.Arg892=
XM_011516185.2:c.2376_2377delinsCA	XP_011514487.1:p.Arg792=
XM_011516186.3:c.2676_2677delinsCA	XP_011514488.1:p.Arg892=
XM_017012195.1:c.2526_2527delinsCA	XP_016867684.1:p.Arg842=
XM_017012196.1:c.2499_2500delinsCA	XP_016867685.1:p.Arg833=
NM_000238.4:c.2676_2677delinsCA MANE Select	NP_000229.1:p.Arg892=
NM_172057.3:c.1656_1657delinsCA	NP_742054.1:p.Arg552=