Canonical Allele Identifier: CA2580077691

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1758500
• ClinVar RCV Id: RCV002380296

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958242dup , CM000669.2:g.150958242dup	GRCh38
NC_000007.13:g.150655330dup , CM000669.1:g.150655330dup	GRCh37
NC_000007.12:g.150286263dup	NCBI36
NG_008916.1:g.24687dup , LRG_288:g.24687dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1568dup
ENST00000262186.10:c.735dup MANE Select	ENSP00000262186.5:p.Gly246ArgfsTer?
ENST00000262186.9:c.735dup	ENSP00000262186.5:p.Gly246ArgfsTer?
ENST00000430723.4:c.387dup	ENSP00000387657.4:p.Gly130ArgfsTer?
ENST00000532957.5:n.958dup
NM_000238.3:c.735dup , LRG_288t1:c.735dup	NP_000229.1:p.Gly246ArgfsTer?
NM_172056.2:c.735dup , LRG_288t2:c.735dup	NP_742053.1:p.Gly246ArgfsTer?
XM_011516185.1:c.435dup	XP_011514487.1:p.Gly146ArgfsTer?
XM_011516186.1:c.735dup	XP_011514488.1:p.Gly246ArgfsTer?
XM_011516185.2:c.435dup	XP_011514487.1:p.Gly146ArgfsTer?
XM_011516186.3:c.735dup	XP_011514488.1:p.Gly246ArgfsTer?
XM_017012195.1:c.585dup	XP_016867684.1:p.Gly196ArgfsTer?
XM_017012196.1:c.558dup	XP_016867685.1:p.Gly187ArgfsTer?
NM_000238.4:c.735dup MANE Select	NP_000229.1:p.Gly246ArgfsTer?