Canonical Allele Identifier: CA2579062495

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947874del , CM000669.2:g.150947874del	GRCh38
NC_000007.13:g.150644962del , CM000669.1:g.150644962del	GRCh37
NC_000007.12:g.150275895del	NCBI36
NG_008916.1:g.35054del , LRG_288:g.35054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3531del
ENST00000262186.10:c.2698del MANE Select	ENSP00000262186.5:p.Glu900SerfsTer?
ENST00000330883.9:c.1678del	ENSP00000328531.4:p.Glu560SerfsTer?
ENST00000262186.9:c.2698del	ENSP00000262186.5:p.Glu900SerfsTer?
ENST00000330883.8:c.1678del	ENSP00000328531.4:p.Glu560SerfsTer?
NM_000238.3:c.2698del , LRG_288t1:c.2698del	NP_000229.1:p.Glu900SerfsTer?
NM_172057.2:c.1678del , LRG_288t3:c.1678del	NP_742054.1:p.Glu560SerfsTer?
XM_011516185.1:c.2398del	XP_011514487.1:p.Glu800SerfsTer?
XM_011516186.1:c.2693-182del	XP_011514488.1:n.2693-182del
XM_011516185.2:c.2398del	XP_011514487.1:p.Glu800SerfsTer?
XM_011516186.3:c.2693-182del	XP_011514488.1:n.2693-182del
XM_017012195.1:c.2548del	XP_016867684.1:p.Glu850SerfsTer?
XM_017012196.1:c.2521del	XP_016867685.1:p.Glu841SerfsTer?
NM_000238.4:c.2698del MANE Select	NP_000229.1:p.Glu900SerfsTer?
NM_172057.3:c.1678del	NP_742054.1:p.Glu560SerfsTer?