Canonical Allele Identifier: CA2695208622

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957410_150957411insA , CM000669.2:g.150957410_150957411insA	GRCh38
NC_000007.13:g.150654498_150654499insA , CM000669.1:g.150654498_150654499insA	GRCh37
NC_000007.12:g.150285431_150285432insA	NCBI36
NG_008916.1:g.25516_25517insT , LRG_288:g.25516_25517insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1841_1842insT
ENST00000262186.10:c.1008_1009insT MANE Select	ENSP00000262186.5:p.Thr337TyrfsTer19
ENST00000262186.9:c.1008_1009insT	ENSP00000262186.5:p.Thr337TyrfsTer19
ENST00000430723.4:c.660_661insT	ENSP00000387657.4:p.Thr221TyrfsTer19
ENST00000532957.5:n.1231_1232insT
NM_000238.3:c.1008_1009insT , LRG_288t1:c.1008_1009insT	NP_000229.1:p.Thr337TyrfsTer19
NM_172056.2:c.1008_1009insT , LRG_288t2:c.1008_1009insT	NP_742053.1:p.Thr337TyrfsTer19
XM_011516185.1:c.708_709insT	XP_011514487.1:p.Thr237TyrfsTer19
XM_011516186.1:c.1008_1009insT	XP_011514488.1:p.Thr337TyrfsTer19
XM_011516185.2:c.708_709insT	XP_011514487.1:p.Thr237TyrfsTer19
XM_011516186.3:c.1008_1009insT	XP_011514488.1:p.Thr337TyrfsTer19
XM_017012195.1:c.858_859insT	XP_016867684.1:p.Thr287TyrfsTer19
XM_017012196.1:c.831_832insT	XP_016867685.1:p.Thr278TyrfsTer19
NM_000238.4:c.1008_1009insT MANE Select	NP_000229.1:p.Thr337TyrfsTer19