Canonical Allele Identifier: CA2778425849

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951170dup , CM000669.2:g.150951170dup	GRCh38
NC_000007.13:g.150648258dup , CM000669.1:g.150648258dup	GRCh37
NC_000007.12:g.150279191dup	NCBI36
NG_008916.1:g.31757dup , LRG_288:g.31757dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1244-50dup
ENST00000683359.1:n.70-50dup
ENST00000684241.1:n.2779-50dup
ENST00000262186.10:c.1946-50dup MANE Select	ENSP00000262186.5:n.1946-50dup
ENST00000330883.9:c.926-50dup	ENSP00000328531.4:n.926-50dup
ENST00000262186.9:c.1946-50dup	ENSP00000262186.5:n.1946-50dup
ENST00000330883.8:c.926-50dup	ENSP00000328531.4:n.926-50dup
ENST00000430723.4:c.1598-50dup	ENSP00000387657.4:n.1598-50dup
ENST00000461280.1:n.1233-50dup
ENST00000473610.5:n.1528dup
ENST00000532957.5:n.2169-50dup
NM_000238.3:c.1946-50dup , LRG_288t1:c.1946-50dup	NP_000229.1:n.1946-50dup
NM_001204798.1:c.926-50dup	NP_001191727.1:n.926-50dup
NM_172056.2:c.1946-50dup , LRG_288t2:c.1946-50dup	NP_742053.1:n.1946-50dup
NM_172057.2:c.926-50dup , LRG_288t3:c.926-50dup	NP_742054.1:n.926-50dup
XM_011516185.1:c.1646-50dup	XP_011514487.1:n.1646-50dup
XM_011516186.1:c.1946-50dup	XP_011514488.1:n.1946-50dup
XM_011516185.2:c.1646-50dup	XP_011514487.1:n.1646-50dup
XM_011516186.3:c.1946-50dup	XP_011514488.1:n.1946-50dup
XM_017012195.1:c.1796-50dup	XP_016867684.1:n.1796-50dup
XM_017012196.1:c.1769-50dup	XP_016867685.1:n.1769-50dup
NM_000238.4:c.1946-50dup MANE Select	NP_000229.1:n.1946-50dup
NM_001204798.2:c.926-50dup	NP_001191727.1:n.926-50dup
NM_172057.3:c.926-50dup	NP_742054.1:n.926-50dup