Canonical Allele Identifier: CA2695208813

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948452_150948453insGTGC , CM000669.2:g.150948452_150948453insGTGC	GRCh38
NC_000007.13:g.150645540_150645541insGTGC , CM000669.1:g.150645540_150645541insGTGC	GRCh37
NC_000007.12:g.150276473_150276474insGTGC	NCBI36
NG_008916.1:g.34474_34475insGCAC , LRG_288:g.34474_34475insGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3516_3517insGCAC
ENST00000262186.10:c.2683_2684insGCAC MANE Select	ENSP00000262186.5:p.Thr895SerfsTer26
ENST00000330883.9:c.1663_1664insGCAC	ENSP00000328531.4:p.Thr555SerfsTer26
ENST00000262186.9:c.2683_2684insGCAC	ENSP00000262186.5:p.Thr895SerfsTer26
ENST00000330883.8:c.1663_1664insGCAC	ENSP00000328531.4:p.Thr555SerfsTer26
NM_000238.3:c.2683_2684insGCAC , LRG_288t1:c.2683_2684insGCAC	NP_000229.1:p.Thr895SerfsTer26
NM_172057.2:c.1663_1664insGCAC , LRG_288t3:c.1663_1664insGCAC	NP_742054.1:p.Thr555SerfsTer26
XM_011516185.1:c.2383_2384insGCAC	XP_011514487.1:p.Thr795SerfsTer26
XM_011516186.1:c.2683_2684insGCAC	XP_011514488.1:p.Thr895SerfsTer?
XM_011516185.2:c.2383_2384insGCAC	XP_011514487.1:p.Thr795SerfsTer26
XM_011516186.3:c.2683_2684insGCAC	XP_011514488.1:p.Thr895SerfsTer?
XM_017012195.1:c.2533_2534insGCAC	XP_016867684.1:p.Thr845SerfsTer26
XM_017012196.1:c.2506_2507insGCAC	XP_016867685.1:p.Thr836SerfsTer26
NM_000238.4:c.2683_2684insGCAC MANE Select	NP_000229.1:p.Thr895SerfsTer26
NM_172057.3:c.1663_1664insGCAC	NP_742054.1:p.Thr555SerfsTer26