Canonical Allele Identifier: CA2695208815

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948477_150948481dup , CM000669.2:g.150948477_150948481dup	GRCh38
NC_000007.13:g.150645565_150645569dup , CM000669.1:g.150645565_150645569dup	GRCh37
NC_000007.12:g.150276498_150276502dup	NCBI36
NG_008916.1:g.34446_34450dup , LRG_288:g.34446_34450dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3488_3492dup
ENST00000262186.10:c.2655_2659dup MANE Select	ENSP00000262186.5:p.Arg887ProfsTer?
ENST00000330883.9:c.1635_1639dup	ENSP00000328531.4:p.Arg547ProfsTer?
ENST00000262186.9:c.2655_2659dup	ENSP00000262186.5:p.Arg887ProfsTer?
ENST00000330883.8:c.1635_1639dup	ENSP00000328531.4:p.Arg547ProfsTer?
NM_000238.3:c.2655_2659dup , LRG_288t1:c.2655_2659dup	NP_000229.1:p.Arg887ProfsTer?
NM_172057.2:c.1635_1639dup , LRG_288t3:c.1635_1639dup	NP_742054.1:p.Arg547ProfsTer?
XM_011516185.1:c.2355_2359dup	XP_011514487.1:p.Arg787ProfsTer?
XM_011516186.1:c.2655_2659dup	XP_011514488.1:p.Arg887ProfsTer?
XM_011516185.2:c.2355_2359dup	XP_011514487.1:p.Arg787ProfsTer?
XM_011516186.3:c.2655_2659dup	XP_011514488.1:p.Arg887ProfsTer?
XM_017012195.1:c.2505_2509dup	XP_016867684.1:p.Arg837ProfsTer?
XM_017012196.1:c.2478_2482dup	XP_016867685.1:p.Arg828ProfsTer?
NM_000238.4:c.2655_2659dup MANE Select	NP_000229.1:p.Arg887ProfsTer?
NM_172057.3:c.1635_1639dup	NP_742054.1:p.Arg547ProfsTer?