Canonical Allele Identifier: CA2499218785

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1191999
• ClinVar RCV Id: RCV001553294
• dbSNP Id: rs2116929974

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947448del , CM000669.2:g.150947448del	GRCh38
NC_000007.13:g.150644536del , CM000669.1:g.150644536del	GRCh37
NC_000007.12:g.150275469del	NCBI36
NG_008916.1:g.35479del , LRG_288:g.35479del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3865del
ENST00000262186.10:c.3032del MANE Select	ENSP00000262186.5:p.Glu1011GlyfsTer?
ENST00000330883.9:c.2012del	ENSP00000328531.4:p.Glu671GlyfsTer?
ENST00000262186.9:c.3032del	ENSP00000262186.5:p.Glu1011GlyfsTer?
ENST00000330883.8:c.2012del	ENSP00000328531.4:p.Glu671GlyfsTer?
NM_000238.3:c.3032del , LRG_288t1:c.3032del	NP_000229.1:p.Glu1011GlyfsTer?
NM_172057.2:c.2012del , LRG_288t3:c.2012del	NP_742054.1:p.Glu671GlyfsTer?
XM_011516185.1:c.2732del	XP_011514487.1:p.Glu911GlyfsTer?
XM_011516186.1:c.*112del	XP_011514488.1:n.*112del
XM_011516185.2:c.2732del	XP_011514487.1:p.Glu911GlyfsTer?
XM_011516186.3:c.*112del	XP_011514488.1:n.*112del
XM_017012195.1:c.2882del	XP_016867684.1:p.Glu961GlyfsTer?
XM_017012196.1:c.2855del	XP_016867685.1:p.Glu952GlyfsTer?
NM_000238.4:c.3032del MANE Select	NP_000229.1:p.Glu1011GlyfsTer?
NM_172057.3:c.2012del	NP_742054.1:p.Glu671GlyfsTer?