Canonical Allele Identifier: CA2695208668

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959692_150959693dup , CM000669.2:g.150959692_150959693dup	GRCh38
NC_000007.13:g.150656780_150656781dup , CM000669.1:g.150656780_150656781dup	GRCh37
NC_000007.12:g.150287713_150287714dup	NCBI36
NG_008916.1:g.23234_23235dup , LRG_288:g.23234_23235dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1184_1185dup
ENST00000262186.10:c.351_352dup MANE Select	ENSP00000262186.5:p.Glu118AlafsTer16
ENST00000262186.9:c.351_352dup	ENSP00000262186.5:p.Glu118AlafsTer16
ENST00000430723.4:c.174_175dup	ENSP00000387657.4:p.Glu59AlafsTer16
ENST00000532957.5:n.574_575dup
NM_000238.3:c.351_352dup , LRG_288t1:c.351_352dup	NP_000229.1:p.Glu118AlafsTer16
NM_172056.2:c.351_352dup , LRG_288t2:c.351_352dup	NP_742053.1:p.Glu118AlafsTer16
XM_011516185.1:c.51_52dup	XP_011514487.1:p.Glu18AlafsTer16
XM_011516186.1:c.351_352dup	XP_011514488.1:p.Glu118AlafsTer16
XM_011516185.2:c.51_52dup	XP_011514487.1:p.Glu18AlafsTer16
XM_011516186.3:c.351_352dup	XP_011514488.1:p.Glu118AlafsTer16
XM_017012195.1:c.201_202dup	XP_016867684.1:p.Glu68AlafsTer16
XM_017012196.1:c.174_175dup	XP_016867685.1:p.Glu59AlafsTer16
NM_000238.4:c.351_352dup MANE Select	NP_000229.1:p.Glu118AlafsTer16