Canonical Allele Identifier: CA1752433807

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801108788

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950540_150950541dup , CM000669.2:g.150950540_150950541dup	GRCh38
NC_000007.13:g.150647628_150647629dup , CM000669.1:g.150647628_150647629dup	GRCh37
NC_000007.12:g.150278561_150278562dup	NCBI36
NG_008916.1:g.32388_32389dup , LRG_288:g.32388_32389dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1444-119_1444-118dup
ENST00000684241.1:n.2979-119_2979-118dup
ENST00000262186.10:c.2146-119_2146-118dup MANE Select	ENSP00000262186.5:n.2146-119_2146-118dup
ENST00000330883.9:c.1126-119_1126-118dup	ENSP00000328531.4:n.1126-119_1126-118dup
ENST00000262186.9:c.2146-119_2146-118dup	ENSP00000262186.5:n.2146-119_2146-118dup
ENST00000330883.8:c.1126-119_1126-118dup	ENSP00000328531.4:n.1126-119_1126-118dup
ENST00000430723.4:c.1798-119_1798-118dup	ENSP00000387657.4:n.1798-119_1798-118dup
ENST00000461280.1:n.1433-119_1433-118dup
ENST00000473610.5:n.1778-119_1778-118dup
ENST00000532957.5:n.2369-119_2369-118dup
NM_000238.3:c.2146-119_2146-118dup , LRG_288t1:c.2146-119_2146-118dup	NP_000229.1:n.2146-119_2146-118dup
NM_001204798.1:c.1126-119_1126-118dup	NP_001191727.1:n.1126-119_1126-118dup
NM_172056.2:c.2146-119_2146-118dup , LRG_288t2:c.2146-119_2146-118dup	NP_742053.1:n.2146-119_2146-118dup
NM_172057.2:c.1126-119_1126-118dup , LRG_288t3:c.1126-119_1126-118dup	NP_742054.1:n.1126-119_1126-118dup
XM_011516185.1:c.1846-119_1846-118dup	XP_011514487.1:n.1846-119_1846-118dup
XM_011516186.1:c.2146-119_2146-118dup	XP_011514488.1:n.2146-119_2146-118dup
XM_011516185.2:c.1846-119_1846-118dup	XP_011514487.1:n.1846-119_1846-118dup
XM_011516186.3:c.2146-119_2146-118dup	XP_011514488.1:n.2146-119_2146-118dup
XM_017012195.1:c.1996-119_1996-118dup	XP_016867684.1:n.1996-119_1996-118dup
XM_017012196.1:c.1969-119_1969-118dup	XP_016867685.1:n.1969-119_1969-118dup
NM_000238.4:c.2146-119_2146-118dup MANE Select	NP_000229.1:n.2146-119_2146-118dup
NM_001204798.2:c.1126-119_1126-118dup	NP_001191727.1:n.1126-119_1126-118dup
NM_172057.3:c.1126-119_1126-118dup	NP_742054.1:n.1126-119_1126-118dup