Canonical Allele Identifier: CA915945572

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 692259
• ClinVar RCV Id: RCV000853607 ; RCV001858519
• dbSNP Id: rs1584847173

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948524dup , CM000669.2:g.150948524dup	GRCh38
NC_000007.13:g.150645612dup , CM000669.1:g.150645612dup	GRCh37
NC_000007.12:g.150276545dup	NCBI36
NG_008916.1:g.34407dup , LRG_288:g.34407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3449dup
ENST00000262186.10:c.2616dup MANE Select	ENSP00000262186.5:p.Gly873ArgfsTer?
ENST00000330883.9:c.1596dup	ENSP00000328531.4:p.Gly533ArgfsTer?
ENST00000262186.9:c.2616dup	ENSP00000262186.5:p.Gly873ArgfsTer?
ENST00000330883.8:c.1596dup	ENSP00000328531.4:p.Gly533ArgfsTer?
NM_000238.3:c.2616dup , LRG_288t1:c.2616dup	NP_000229.1:p.Gly873ArgfsTer?
NM_172057.2:c.1596dup , LRG_288t3:c.1596dup	NP_742054.1:p.Gly533ArgfsTer?
XM_011516185.1:c.2316dup	XP_011514487.1:p.Gly773ArgfsTer?
XM_011516186.1:c.2616dup	XP_011514488.1:p.Gly873ArgfsTer?
XM_011516185.2:c.2316dup	XP_011514487.1:p.Gly773ArgfsTer?
XM_011516186.3:c.2616dup	XP_011514488.1:p.Gly873ArgfsTer?
XM_017012195.1:c.2466dup	XP_016867684.1:p.Gly823ArgfsTer?
XM_017012196.1:c.2439dup	XP_016867685.1:p.Gly814ArgfsTer?
NM_000238.4:c.2616dup MANE Select	NP_000229.1:p.Gly873ArgfsTer?
NM_172057.3:c.1596dup	NP_742054.1:p.Gly533ArgfsTer?