Canonical Allele Identifier: CA2499218807

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1163878
• ClinVar RCV Id: RCV001509331 ; RCV002564283
• dbSNP Id: rs2117004912

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958277_150958282del , CM000669.2:g.150958277_150958282del	GRCh38
NC_000007.13:g.150655365_150655370del , CM000669.1:g.150655365_150655370del	GRCh37
NC_000007.12:g.150286298_150286303del	NCBI36
NG_008916.1:g.24647_24652del , LRG_288:g.24647_24652del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1528_1533del
ENST00000262186.10:c.695_700del MANE Select	ENSP00000262186.5:p.Arg232_Ala233del
ENST00000262186.9:c.695_700del	ENSP00000262186.5:p.Arg232_Ala233del
ENST00000430723.4:c.347_352del	ENSP00000387657.4:p.Arg116_Ala117del
ENST00000532957.5:n.918_923del
NM_000238.3:c.695_700del , LRG_288t1:c.695_700del	NP_000229.1:p.Arg232_Ala233del
NM_172056.2:c.695_700del , LRG_288t2:c.695_700del	NP_742053.1:p.Arg232_Ala233del
XM_011516185.1:c.395_400del	XP_011514487.1:p.Arg132_Ala133del
XM_011516186.1:c.695_700del	XP_011514488.1:p.Arg232_Ala233del
XM_011516185.2:c.395_400del	XP_011514487.1:p.Arg132_Ala133del
XM_011516186.3:c.695_700del	XP_011514488.1:p.Arg232_Ala233del
XM_017012195.1:c.545_550del	XP_016867684.1:p.Arg182_Ala183del
XM_017012196.1:c.518_523del	XP_016867685.1:p.Arg173_Ala174del
NM_000238.4:c.695_700del MANE Select	NP_000229.1:p.Arg232_Ala233del