Canonical Allele Identifier: CA1752416771

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957404_150957405delinsTG , CM000669.2:g.150957404_150957405delinsTG	GRCh38
NC_000007.13:g.150654492_150654493delinsTG , CM000669.1:g.150654492_150654493delinsTG	GRCh37
NC_000007.12:g.150285425_150285426delinsTG	NCBI36
NG_008916.1:g.25522_25523delinsCA , LRG_288:g.25522_25523delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1847_1848delinsCA
ENST00000262186.10:c.1014_1015delinsCA MANE Select	ENSP00000262186.5:p.Leu338=
ENST00000262186.9:c.1014_1015delinsCA	ENSP00000262186.5:p.Leu338=
ENST00000430723.4:c.666_667delinsCA	ENSP00000387657.4:p.Leu222=
ENST00000532957.5:n.1237_1238delinsCA
NM_000238.3:c.1014_1015delinsCA , LRG_288t1:c.1014_1015delinsCA	NP_000229.1:p.Leu338=
NM_172056.2:c.1014_1015delinsCA , LRG_288t2:c.1014_1015delinsCA	NP_742053.1:p.Leu338=
XM_011516185.1:c.714_715delinsCA	XP_011514487.1:p.Leu238=
XM_011516186.1:c.1014_1015delinsCA	XP_011514488.1:p.Leu338=
XM_011516185.2:c.714_715delinsCA	XP_011514487.1:p.Leu238=
XM_011516186.3:c.1014_1015delinsCA	XP_011514488.1:p.Leu338=
XM_017012195.1:c.864_865delinsCA	XP_016867684.1:p.Leu288=
XM_017012196.1:c.837_838delinsCA	XP_016867685.1:p.Leu279=
NM_000238.4:c.1014_1015delinsCA MANE Select	NP_000229.1:p.Leu338=