Canonical Allele Identifier: CA2695208702

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950307_150950317dup , CM000669.2:g.150950307_150950317dup	GRCh38
NC_000007.13:g.150647395_150647405dup , CM000669.1:g.150647395_150647405dup	GRCh37
NC_000007.12:g.150278328_150278338dup	NCBI36
NG_008916.1:g.32610_32620dup , LRG_288:g.32610_32620dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1547_1557dup
ENST00000684241.1:n.3082_3092dup
ENST00000262186.10:c.2249_2259dup MANE Select	ENSP00000262186.5:p.Leu754AlafsTer7
ENST00000330883.9:c.1229_1239dup	ENSP00000328531.4:p.Leu414AlafsTer7
ENST00000262186.9:c.2249_2259dup	ENSP00000262186.5:p.Leu754AlafsTer7
ENST00000330883.8:c.1229_1239dup	ENSP00000328531.4:p.Leu414AlafsTer7
ENST00000430723.4:c.1901_1911dup	ENSP00000387657.4:p.Leu638AlafsTer7
ENST00000461280.1:n.1536_1546dup
ENST00000473610.5:n.1881_1891dup
ENST00000532957.5:n.2472_2482dup
NM_000238.3:c.2249_2259dup , LRG_288t1:c.2249_2259dup	NP_000229.1:p.Leu754AlafsTer7
NM_001204798.1:c.1229_1239dup	NP_001191727.1:p.Leu414AlafsTer7
NM_172056.2:c.2249_2259dup , LRG_288t2:c.2249_2259dup	NP_742053.1:p.Leu754AlafsTer7
NM_172057.2:c.1229_1239dup , LRG_288t3:c.1229_1239dup	NP_742054.1:p.Leu414AlafsTer7
XM_011516185.1:c.1949_1959dup	XP_011514487.1:p.Leu654AlafsTer7
XM_011516186.1:c.2249_2259dup	XP_011514488.1:p.Leu754AlafsTer7
XM_011516185.2:c.1949_1959dup	XP_011514487.1:p.Leu654AlafsTer7
XM_011516186.3:c.2249_2259dup	XP_011514488.1:p.Leu754AlafsTer7
XM_017012195.1:c.2099_2109dup	XP_016867684.1:p.Leu704AlafsTer7
XM_017012196.1:c.2072_2082dup	XP_016867685.1:p.Leu695AlafsTer7
NM_000238.4:c.2249_2259dup MANE Select	NP_000229.1:p.Leu754AlafsTer7
NM_001204798.2:c.1229_1239dup	NP_001191727.1:p.Leu414AlafsTer7
NM_172057.3:c.1229_1239dup	NP_742054.1:p.Leu414AlafsTer7