Canonical Allele Identifier: CA2778425796

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957550_150957552del , CM000669.2:g.150957550_150957552del	GRCh38
NC_000007.13:g.150654638_150654640del , CM000669.1:g.150654638_150654640del	GRCh37
NC_000007.12:g.150285571_150285573del	NCBI36
NG_008916.1:g.25375_25377del , LRG_288:g.25375_25377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-50_1750-48del
ENST00000262186.10:c.917-50_917-48del MANE Select	ENSP00000262186.5:n.917-50_917-48del
ENST00000262186.9:c.917-50_917-48del	ENSP00000262186.5:n.917-50_917-48del
ENST00000430723.4:c.569-50_569-48del	ENSP00000387657.4:n.569-50_569-48del
ENST00000532957.5:n.1140-50_1140-48del
NM_000238.3:c.917-50_917-48del , LRG_288t1:c.917-50_917-48del	NP_000229.1:n.917-50_917-48del
NM_172056.2:c.917-50_917-48del , LRG_288t2:c.917-50_917-48del	NP_742053.1:n.917-50_917-48del
XM_011516185.1:c.617-50_617-48del	XP_011514487.1:n.617-50_617-48del
XM_011516186.1:c.917-50_917-48del	XP_011514488.1:n.917-50_917-48del
XM_011516185.2:c.617-50_617-48del	XP_011514487.1:n.617-50_617-48del
XM_011516186.3:c.917-50_917-48del	XP_011514488.1:n.917-50_917-48del
XM_017012195.1:c.767-50_767-48del	XP_016867684.1:n.767-50_767-48del
XM_017012196.1:c.740-50_740-48del	XP_016867685.1:n.740-50_740-48del
NM_000238.4:c.917-50_917-48del MANE Select	NP_000229.1:n.917-50_917-48del