Canonical Allele Identifier: CA2840111949

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150955363dup , CM000669.2:g.150955363dup	GRCh38
NC_000007.13:g.150652451dup , CM000669.1:g.150652451dup	GRCh37
NC_000007.12:g.150283384dup	NCBI36
NG_008916.1:g.27567dup , LRG_288:g.27567dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.426+36dup
ENST00000684241.1:n.1961+1931dup
ENST00000262186.10:c.1128+1931dup MANE Select	ENSP00000262186.5:n.1128+1931dup
ENST00000330883.9:c.108+36dup	ENSP00000328531.4:n.108+36dup
ENST00000262186.9:c.1128+1931dup	ENSP00000262186.5:n.1128+1931dup
ENST00000330883.8:c.108+36dup	ENSP00000328531.4:n.108+36dup
ENST00000430723.4:c.780+1931dup	ENSP00000387657.4:n.780+1931dup
ENST00000461280.1:n.415+36dup
ENST00000473610.5:n.433+36dup
ENST00000532957.5:n.1351+1931dup
NM_000238.3:c.1128+1931dup , LRG_288t1:c.1128+1931dup	NP_000229.1:n.1128+1931dup
NM_001204798.1:c.108+36dup	NP_001191727.1:n.108+36dup
NM_172056.2:c.1128+1931dup , LRG_288t2:c.1128+1931dup	NP_742053.1:n.1128+1931dup
NM_172057.2:c.108+36dup , LRG_288t3:c.108+36dup	NP_742054.1:n.108+36dup
XM_011516185.1:c.828+1931dup	XP_011514487.1:n.828+1931dup
XM_011516186.1:c.1128+1931dup	XP_011514488.1:n.1128+1931dup
XM_011516185.2:c.828+1931dup	XP_011514487.1:n.828+1931dup
XM_011516186.3:c.1128+1931dup	XP_011514488.1:n.1128+1931dup
XM_017012195.1:c.978+1931dup	XP_016867684.1:n.978+1931dup
XM_017012196.1:c.951+1931dup	XP_016867685.1:n.951+1931dup
NM_000238.4:c.1128+1931dup MANE Select	NP_000229.1:n.1128+1931dup
NM_001204798.2:c.108+36dup	NP_001191727.1:n.108+36dup
NM_172057.3:c.108+36dup	NP_742054.1:n.108+36dup