Canonical Allele Identifier: CA2840140969

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947503dup , CM000669.2:g.150947503dup	GRCh38
NC_000007.13:g.150644591dup , CM000669.1:g.150644591dup	GRCh37
NC_000007.12:g.150275524dup	NCBI36
NG_008916.1:g.35425dup , LRG_288:g.35425dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3811dup
ENST00000262186.10:c.2978dup MANE Select	ENSP00000262186.5:p.Val994SerfsTer?
ENST00000330883.9:c.1958dup	ENSP00000328531.4:p.Val654SerfsTer?
ENST00000262186.9:c.2978dup	ENSP00000262186.5:p.Val994SerfsTer?
ENST00000330883.8:c.1958dup	ENSP00000328531.4:p.Val654SerfsTer?
NM_000238.3:c.2978dup , LRG_288t1:c.2978dup	NP_000229.1:p.Val994SerfsTer?
NM_172057.2:c.1958dup , LRG_288t3:c.1958dup	NP_742054.1:p.Val654SerfsTer?
XM_011516185.1:c.2678dup	XP_011514487.1:p.Val894SerfsTer?
XM_011516186.1:c.*58dup	XP_011514488.1:n.*58dup
XM_011516185.2:c.2678dup	XP_011514487.1:p.Val894SerfsTer?
XM_011516186.3:c.*58dup	XP_011514488.1:n.*58dup
XM_017012195.1:c.2828dup	XP_016867684.1:p.Val944SerfsTer?
XM_017012196.1:c.2801dup	XP_016867685.1:p.Val935SerfsTer?
NM_000238.4:c.2978dup MANE Select	NP_000229.1:p.Val994SerfsTer?
NM_172057.3:c.1958dup	NP_742054.1:p.Val654SerfsTer?