Canonical Allele Identifier: CA2695208819

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948513_150948517dup , CM000669.2:g.150948513_150948517dup	GRCh38
NC_000007.13:g.150645601_150645605dup , CM000669.1:g.150645601_150645605dup	GRCh37
NC_000007.12:g.150276534_150276538dup	NCBI36
NG_008916.1:g.34411_34415dup , LRG_288:g.34411_34415dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3453_3457dup
ENST00000262186.10:c.2620_2624dup MANE Select	ENSP00000262186.5:p.Glu876ValfsTer4
ENST00000330883.9:c.1600_1604dup	ENSP00000328531.4:p.Glu536ValfsTer4
ENST00000262186.9:c.2620_2624dup	ENSP00000262186.5:p.Glu876ValfsTer4
ENST00000330883.8:c.1600_1604dup	ENSP00000328531.4:p.Glu536ValfsTer4
NM_000238.3:c.2620_2624dup , LRG_288t1:c.2620_2624dup	NP_000229.1:p.Glu876ValfsTer4
NM_172057.2:c.1600_1604dup , LRG_288t3:c.1600_1604dup	NP_742054.1:p.Glu536ValfsTer4
XM_011516185.1:c.2320_2324dup	XP_011514487.1:p.Glu776ValfsTer4
XM_011516186.1:c.2620_2624dup	XP_011514488.1:p.Glu876ValfsTer4
XM_011516185.2:c.2320_2324dup	XP_011514487.1:p.Glu776ValfsTer4
XM_011516186.3:c.2620_2624dup	XP_011514488.1:p.Glu876ValfsTer4
XM_017012195.1:c.2470_2474dup	XP_016867684.1:p.Glu826ValfsTer4
XM_017012196.1:c.2443_2447dup	XP_016867685.1:p.Glu817ValfsTer4
NM_000238.4:c.2620_2624dup MANE Select	NP_000229.1:p.Glu876ValfsTer4
NM_172057.3:c.1600_1604dup	NP_742054.1:p.Glu536ValfsTer4