Canonical Allele Identifier: CA2778425494

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948486_150948487insAT , CM000669.2:g.150948486_150948487insAT	GRCh38
NC_000007.13:g.150645574_150645575insAT , CM000669.1:g.150645574_150645575insAT	GRCh37
NC_000007.12:g.150276507_150276508insAT	NCBI36
NG_008916.1:g.34440_34441insAT , LRG_288:g.34440_34441insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3482_3483insAT
ENST00000262186.10:c.2649_2650insAT MANE Select	ENSP00000262186.5:p.Gln884IlefsTer?
ENST00000330883.9:c.1629_1630insAT	ENSP00000328531.4:p.Gln544IlefsTer?
ENST00000262186.9:c.2649_2650insAT	ENSP00000262186.5:p.Gln884IlefsTer?
ENST00000330883.8:c.1629_1630insAT	ENSP00000328531.4:p.Gln544IlefsTer?
NM_000238.3:c.2649_2650insAT , LRG_288t1:c.2649_2650insAT	NP_000229.1:p.Gln884IlefsTer?
NM_172057.2:c.1629_1630insAT , LRG_288t3:c.1629_1630insAT	NP_742054.1:p.Gln544IlefsTer?
XM_011516185.1:c.2349_2350insAT	XP_011514487.1:p.Gln784IlefsTer?
XM_011516186.1:c.2649_2650insAT	XP_011514488.1:p.Gln884IlefsTer?
XM_011516185.2:c.2349_2350insAT	XP_011514487.1:p.Gln784IlefsTer?
XM_011516186.3:c.2649_2650insAT	XP_011514488.1:p.Gln884IlefsTer?
XM_017012195.1:c.2499_2500insAT	XP_016867684.1:p.Gln834IlefsTer?
XM_017012196.1:c.2472_2473insAT	XP_016867685.1:p.Gln825IlefsTer?
NM_000238.4:c.2649_2650insAT MANE Select	NP_000229.1:p.Gln884IlefsTer?
NM_172057.3:c.1629_1630insAT	NP_742054.1:p.Gln544IlefsTer?