Canonical Allele Identifier: CA2697557662

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946949_150946950insC , CM000669.2:g.150946949_150946950insC	GRCh38
NC_000007.13:g.150644037_150644038insC , CM000669.1:g.150644037_150644038insC	GRCh37
NC_000007.12:g.150274970_150274971insC	NCBI36
NG_008916.1:g.35977_35978insG , LRG_288:g.35977_35978insG

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.3257_3258insG MANE Select	NP_000229.1:p.Gly1087TrpfsTer?
ENST00000262186.10:c.3257_3258insG MANE Select	ENSP00000262186.5:p.Gly1087TrpfsTer?
NM_000238.3:c.3257_3258insG , LRG_288t1:c.3257_3258insG	NP_000229.1:p.Gly1087TrpfsTer?
NM_172057.2:c.2237_2238insG , LRG_288t3:c.2237_2238insG	NP_742054.1:p.Gly747TrpfsTer?
NM_172057.3:c.2237_2238insG	NP_742054.1:p.Gly747TrpfsTer?
ENST00000262186.9:c.3257_3258insG	ENSP00000262186.5:p.Gly1087TrpfsTer?
ENST00000330883.8:c.2237_2238insG	ENSP00000328531.4:p.Gly747TrpfsTer?
ENST00000330883.9:c.2237_2238insG	ENSP00000328531.4:p.Gly747TrpfsTer?
ENST00000684241.1:n.4090_4091insG
XM_011516185.1:c.2957_2958insG	XP_011514487.1:p.Gly987TrpfsTer?
XM_011516185.2:c.2957_2958insG	XP_011514487.1:p.Gly987TrpfsTer?
XM_017012195.1:c.3107_3108insG	XP_016867684.1:p.Gly1037TrpfsTer?
XM_017012196.1:c.3080_3081insG	XP_016867685.1:p.Gly1028TrpfsTer?