Canonical Allele Identifier: CA2695208655

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958496dup , CM000669.2:g.150958496dup	GRCh38
NC_000007.13:g.150655584dup , CM000669.1:g.150655584dup	GRCh37
NC_000007.12:g.150286517dup	NCBI36
NG_008916.1:g.24432dup , LRG_288:g.24432dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1313dup
ENST00000262186.10:c.480dup MANE Select	ENSP00000262186.5:p.Lys161GlnfsTer?
ENST00000262186.9:c.480dup	ENSP00000262186.5:p.Lys161GlnfsTer?
ENST00000430723.4:c.235-103dup	ENSP00000387657.4:n.235-103dup
ENST00000532957.5:n.703dup
NM_000238.3:c.480dup , LRG_288t1:c.480dup	NP_000229.1:p.Lys161GlnfsTer?
NM_172056.2:c.480dup , LRG_288t2:c.480dup	NP_742053.1:p.Lys161GlnfsTer?
XM_011516185.1:c.180dup	XP_011514487.1:p.Lys61GlnfsTer?
XM_011516186.1:c.480dup	XP_011514488.1:p.Lys161GlnfsTer?
XM_011516185.2:c.180dup	XP_011514487.1:p.Lys61GlnfsTer?
XM_011516186.3:c.480dup	XP_011514488.1:p.Lys161GlnfsTer?
XM_017012195.1:c.330dup	XP_016867684.1:p.Lys111GlnfsTer?
XM_017012196.1:c.303dup	XP_016867685.1:p.Lys102GlnfsTer?
NM_000238.4:c.480dup MANE Select	NP_000229.1:p.Lys161GlnfsTer?