Canonical Allele Identifier: CA1752432942

Gene: KCNH2

Linked Data

• dbSNP Id: rs546898924

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950064dup , CM000669.2:g.150950064dup	GRCh38
NC_000007.13:g.150647152dup , CM000669.1:g.150647152dup	GRCh37
NC_000007.12:g.150278085dup	NCBI36
NG_008916.1:g.32864dup , LRG_288:g.32864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1801dup
ENST00000684241.1:n.3231+105dup
ENST00000262186.10:c.2398+105dup MANE Select	ENSP00000262186.5:n.2398+105dup
ENST00000330883.9:c.1378+105dup	ENSP00000328531.4:n.1378+105dup
ENST00000262186.9:c.2398+105dup	ENSP00000262186.5:n.2398+105dup
ENST00000330883.8:c.1378+105dup	ENSP00000328531.4:n.1378+105dup
ENST00000430723.4:c.2155dup	ENSP00000387657.4:p.Leu719ProfsTer28
ENST00000461280.1:n.1790dup
ENST00000473610.5:n.2135dup
ENST00000532957.5:n.2726dup
NM_000238.3:c.2398+105dup , LRG_288t1:c.2398+105dup	NP_000229.1:n.2398+105dup
NM_001204798.1:c.1483dup	NP_001191727.1:p.Leu495ProfsTer28
NM_172056.2:c.2503dup , LRG_288t2:c.2503dup	NP_742053.1:p.Leu835ProfsTer28
NM_172057.2:c.1378+105dup , LRG_288t3:c.1378+105dup	NP_742054.1:n.1378+105dup
XM_011516185.1:c.2098+105dup	XP_011514487.1:n.2098+105dup
XM_011516186.1:c.2398+105dup	XP_011514488.1:n.2398+105dup
XM_011516185.2:c.2098+105dup	XP_011514487.1:n.2098+105dup
XM_011516186.3:c.2398+105dup	XP_011514488.1:n.2398+105dup
XM_017012195.1:c.2248+105dup	XP_016867684.1:n.2248+105dup
XM_017012196.1:c.2221+105dup	XP_016867685.1:n.2221+105dup
NM_000238.4:c.2398+105dup MANE Select	NP_000229.1:n.2398+105dup
NM_001204798.2:c.1483dup	NP_001191727.1:p.Leu495ProfsTer28
NM_172057.3:c.1378+105dup	NP_742054.1:n.1378+105dup