Canonical Allele Identifier: CA2840111927

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948796del , CM000669.2:g.150948796del	GRCh38
NC_000007.13:g.150645884del , CM000669.1:g.150645884del	GRCh37
NC_000007.12:g.150276817del	NCBI36
NG_008916.1:g.34133del , LRG_288:g.34133del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3425+62del
ENST00000262186.10:c.2592+62del MANE Select	ENSP00000262186.5:n.2592+62del
ENST00000330883.9:c.1572+62del	ENSP00000328531.4:n.1572+62del
ENST00000262186.9:c.2592+62del	ENSP00000262186.5:n.2592+62del
ENST00000330883.8:c.1572+62del	ENSP00000328531.4:n.1572+62del
NM_000238.3:c.2592+62del , LRG_288t1:c.2592+62del	NP_000229.1:n.2592+62del
NM_172057.2:c.1572+62del , LRG_288t3:c.1572+62del	NP_742054.1:n.1572+62del
XM_011516185.1:c.2292+62del	XP_011514487.1:n.2292+62del
XM_011516186.1:c.2592+62del	XP_011514488.1:n.2592+62del
XM_011516185.2:c.2292+62del	XP_011514487.1:n.2292+62del
XM_011516186.3:c.2592+62del	XP_011514488.1:n.2592+62del
XM_017012195.1:c.2442+62del	XP_016867684.1:n.2442+62del
XM_017012196.1:c.2415+62del	XP_016867685.1:n.2415+62del
NM_000238.4:c.2592+62del MANE Select	NP_000229.1:n.2592+62del
NM_172057.3:c.1572+62del	NP_742054.1:n.1572+62del