Canonical Allele Identifier: CA2778425519

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948497_150948498insTA , CM000669.2:g.150948497_150948498insTA	GRCh38
NC_000007.13:g.150645585_150645586insTA , CM000669.1:g.150645585_150645586insTA	GRCh37
NC_000007.12:g.150276518_150276519insTA	NCBI36
NG_008916.1:g.34429_34430insTA , LRG_288:g.34429_34430insTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3471_3472insTA
ENST00000262186.10:c.2638_2639insTA MANE Select	ENSP00000262186.5:p.Gly880ValfsTer?
ENST00000330883.9:c.1618_1619insTA	ENSP00000328531.4:p.Gly540ValfsTer?
ENST00000262186.9:c.2638_2639insTA	ENSP00000262186.5:p.Gly880ValfsTer?
ENST00000330883.8:c.1618_1619insTA	ENSP00000328531.4:p.Gly540ValfsTer?
NM_000238.3:c.2638_2639insTA , LRG_288t1:c.2638_2639insTA	NP_000229.1:p.Gly880ValfsTer?
NM_172057.2:c.1618_1619insTA , LRG_288t3:c.1618_1619insTA	NP_742054.1:p.Gly540ValfsTer?
XM_011516185.1:c.2338_2339insTA	XP_011514487.1:p.Gly780ValfsTer?
XM_011516186.1:c.2638_2639insTA	XP_011514488.1:p.Gly880ValfsTer?
XM_011516185.2:c.2338_2339insTA	XP_011514487.1:p.Gly780ValfsTer?
XM_011516186.3:c.2638_2639insTA	XP_011514488.1:p.Gly880ValfsTer?
XM_017012195.1:c.2488_2489insTA	XP_016867684.1:p.Gly830ValfsTer?
XM_017012196.1:c.2461_2462insTA	XP_016867685.1:p.Gly821ValfsTer?
NM_000238.4:c.2638_2639insTA MANE Select	NP_000229.1:p.Gly880ValfsTer?
NM_172057.3:c.1618_1619insTA	NP_742054.1:p.Gly540ValfsTer?