Canonical Allele Identifier: CA2580077704

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1748411
• ClinVar RCV Id: RCV002344740

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958420dup , CM000669.2:g.150958420dup	GRCh38
NC_000007.13:g.150655508dup , CM000669.1:g.150655508dup	GRCh37
NC_000007.12:g.150286441dup	NCBI36
NG_008916.1:g.24509dup , LRG_288:g.24509dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1390dup
ENST00000262186.10:c.557dup MANE Select	ENSP00000262186.5:p.Gly187ArgfsTer?
ENST00000262186.9:c.557dup	ENSP00000262186.5:p.Gly187ArgfsTer?
ENST00000430723.4:c.235-26dup	ENSP00000387657.4:n.235-26dup
ENST00000532957.5:n.780dup
NM_000238.3:c.557dup , LRG_288t1:c.557dup	NP_000229.1:p.Gly187ArgfsTer?
NM_172056.2:c.557dup , LRG_288t2:c.557dup	NP_742053.1:p.Gly187ArgfsTer?
XM_011516185.1:c.257dup	XP_011514487.1:p.Gly87ArgfsTer?
XM_011516186.1:c.557dup	XP_011514488.1:p.Gly187ArgfsTer?
XM_011516185.2:c.257dup	XP_011514487.1:p.Gly87ArgfsTer?
XM_011516186.3:c.557dup	XP_011514488.1:p.Gly187ArgfsTer?
XM_017012195.1:c.407dup	XP_016867684.1:p.Gly137ArgfsTer?
XM_017012196.1:c.380dup	XP_016867685.1:p.Gly128ArgfsTer?
NM_000238.4:c.557dup MANE Select	NP_000229.1:p.Gly187ArgfsTer?