Canonical Allele Identifier: CA2695208631

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958118_150958124dup , CM000669.2:g.150958118_150958124dup	GRCh38
NC_000007.13:g.150655206_150655212dup , CM000669.1:g.150655206_150655212dup	GRCh37
NC_000007.12:g.150286139_150286145dup	NCBI36
NG_008916.1:g.24805_24811dup , LRG_288:g.24805_24811dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1686_1692dup
ENST00000262186.10:c.853_859dup MANE Select	ENSP00000262186.5:p.Asp287GlyfsTer?
ENST00000262186.9:c.853_859dup	ENSP00000262186.5:p.Asp287GlyfsTer?
ENST00000430723.4:c.505_511dup	ENSP00000387657.4:p.Asp171GlyfsTer?
ENST00000532957.5:n.1076_1082dup
NM_000238.3:c.853_859dup , LRG_288t1:c.853_859dup	NP_000229.1:p.Asp287GlyfsTer?
NM_172056.2:c.853_859dup , LRG_288t2:c.853_859dup	NP_742053.1:p.Asp287GlyfsTer?
XM_011516185.1:c.553_559dup	XP_011514487.1:p.Asp187GlyfsTer?
XM_011516186.1:c.853_859dup	XP_011514488.1:p.Asp287GlyfsTer?
XM_011516185.2:c.553_559dup	XP_011514487.1:p.Asp187GlyfsTer?
XM_011516186.3:c.853_859dup	XP_011514488.1:p.Asp287GlyfsTer?
XM_017012195.1:c.703_709dup	XP_016867684.1:p.Asp237GlyfsTer?
XM_017012196.1:c.676_682dup	XP_016867685.1:p.Asp228GlyfsTer?
NM_000238.4:c.853_859dup MANE Select	NP_000229.1:p.Asp287GlyfsTer?