Canonical Allele Identifier: CA2695208817

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948482del , CM000669.2:g.150948482del	GRCh38
NC_000007.13:g.150645570del , CM000669.1:g.150645570del	GRCh37
NC_000007.12:g.150276503del	NCBI36
NG_008916.1:g.34445del , LRG_288:g.34445del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3487del
ENST00000262186.10:c.2654del MANE Select	ENSP00000262186.5:p.Arg885ProfsTer?
ENST00000330883.9:c.1634del	ENSP00000328531.4:p.Arg545ProfsTer?
ENST00000262186.9:c.2654del	ENSP00000262186.5:p.Arg885ProfsTer?
ENST00000330883.8:c.1634del	ENSP00000328531.4:p.Arg545ProfsTer?
NM_000238.3:c.2654del , LRG_288t1:c.2654del	NP_000229.1:p.Arg885ProfsTer?
NM_172057.2:c.1634del , LRG_288t3:c.1634del	NP_742054.1:p.Arg545ProfsTer?
XM_011516185.1:c.2354del	XP_011514487.1:p.Arg785ProfsTer?
XM_011516186.1:c.2654del	XP_011514488.1:p.Arg885ProfsTer?
XM_011516185.2:c.2354del	XP_011514487.1:p.Arg785ProfsTer?
XM_011516186.3:c.2654del	XP_011514488.1:p.Arg885ProfsTer?
XM_017012195.1:c.2504del	XP_016867684.1:p.Arg835ProfsTer?
XM_017012196.1:c.2477del	XP_016867685.1:p.Arg826ProfsTer?
NM_000238.4:c.2654del MANE Select	NP_000229.1:p.Arg885ProfsTer?
NM_172057.3:c.1634del	NP_742054.1:p.Arg545ProfsTer?