Canonical Allele Identifier: CA2695208700

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950222dup , CM000669.2:g.150950222dup	GRCh38
NC_000007.13:g.150647310dup , CM000669.1:g.150647310dup	GRCh37
NC_000007.12:g.150278243dup	NCBI36
NG_008916.1:g.32705dup , LRG_288:g.32705dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1642dup
ENST00000684241.1:n.3177dup
ENST00000262186.10:c.2344dup MANE Select	ENSP00000262186.5:p.Ile782AsnfsTer22
ENST00000330883.9:c.1324dup	ENSP00000328531.4:p.Ile442AsnfsTer22
ENST00000262186.9:c.2344dup	ENSP00000262186.5:p.Ile782AsnfsTer22
ENST00000330883.8:c.1324dup	ENSP00000328531.4:p.Ile442AsnfsTer22
ENST00000430723.4:c.1996dup	ENSP00000387657.4:p.Ile666AsnfsTer?
ENST00000461280.1:n.1631dup
ENST00000473610.5:n.1976dup
ENST00000532957.5:n.2567dup
NM_000238.3:c.2344dup , LRG_288t1:c.2344dup	NP_000229.1:p.Ile782AsnfsTer22
NM_001204798.1:c.1324dup	NP_001191727.1:p.Ile442AsnfsTer?
NM_172056.2:c.2344dup , LRG_288t2:c.2344dup	NP_742053.1:p.Ile782AsnfsTer?
NM_172057.2:c.1324dup , LRG_288t3:c.1324dup	NP_742054.1:p.Ile442AsnfsTer22
XM_011516185.1:c.2044dup	XP_011514487.1:p.Ile682AsnfsTer22
XM_011516186.1:c.2344dup	XP_011514488.1:p.Ile782AsnfsTer22
XM_011516185.2:c.2044dup	XP_011514487.1:p.Ile682AsnfsTer22
XM_011516186.3:c.2344dup	XP_011514488.1:p.Ile782AsnfsTer22
XM_017012195.1:c.2194dup	XP_016867684.1:p.Ile732AsnfsTer22
XM_017012196.1:c.2167dup	XP_016867685.1:p.Ile723AsnfsTer22
NM_000238.4:c.2344dup MANE Select	NP_000229.1:p.Ile782AsnfsTer22
NM_001204798.2:c.1324dup	NP_001191727.1:p.Ile442AsnfsTer?
NM_172057.3:c.1324dup	NP_742054.1:p.Ile442AsnfsTer22