Canonical Allele Identifier: CA2695208789

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947383dup , CM000669.2:g.150947383dup	GRCh38
NC_000007.13:g.150644471dup , CM000669.1:g.150644471dup	GRCh37
NC_000007.12:g.150275404dup	NCBI36
NG_008916.1:g.35544dup , LRG_288:g.35544dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3930dup
ENST00000262186.10:c.3097dup MANE Select	ENSP00000262186.5:p.Arg1033ProfsTer?
ENST00000330883.9:c.2077dup	ENSP00000328531.4:p.Arg693ProfsTer?
ENST00000262186.9:c.3097dup	ENSP00000262186.5:p.Arg1033ProfsTer?
ENST00000330883.8:c.2077dup	ENSP00000328531.4:p.Arg693ProfsTer?
NM_000238.3:c.3097dup , LRG_288t1:c.3097dup	NP_000229.1:p.Arg1033ProfsTer?
NM_172057.2:c.2077dup , LRG_288t3:c.2077dup	NP_742054.1:p.Arg693ProfsTer?
XM_011516185.1:c.2797dup	XP_011514487.1:p.Arg933ProfsTer?
XM_011516185.2:c.2797dup	XP_011514487.1:p.Arg933ProfsTer?
XM_017012195.1:c.2947dup	XP_016867684.1:p.Arg983ProfsTer?
XM_017012196.1:c.2920dup	XP_016867685.1:p.Arg974ProfsTer?
NM_000238.4:c.3097dup MANE Select	NP_000229.1:p.Arg1033ProfsTer?
NM_172057.3:c.2077dup	NP_742054.1:p.Arg693ProfsTer?