Canonical Allele Identifier: CA2580614279

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2571299
• ClinVar RCV Id: RCV003312700

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947360_150947377delinsCCGCCGACCC , CM000669.2:g.150947360_150947377delinsCCGCCGACCC	GRCh38
NC_000007.13:g.150644448_150644465delinsCCGCCGACCC , CM000669.1:g.150644448_150644465delinsCCGCCGACCC	GRCh37
NC_000007.12:g.150275381_150275398delinsCCGCCGACCC	NCBI36
NG_008916.1:g.35550_35567delinsGGGTCGGCGG , LRG_288:g.35550_35567delinsGGGTCGGCGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3936_3953delinsGGGTCGGCGG
ENST00000262186.10:c.3103_3120delinsGGGTCGGCGG MANE Select	ENSP00000262186.5:p.Arg1035GlyfsTer?
ENST00000330883.9:c.2083_2100delinsGGGTCGGCGG	ENSP00000328531.4:p.Arg695GlyfsTer?
ENST00000262186.9:c.3103_3120delinsGGGTCGGCGG	ENSP00000262186.5:p.Arg1035GlyfsTer?
ENST00000330883.8:c.2083_2100delinsGGGTCGGCGG	ENSP00000328531.4:p.Arg695GlyfsTer?
NM_000238.3:c.3103_3120delinsGGGTCGGCGG , LRG_288t1:c.3103_3120delinsGGGTCGGCGG	NP_000229.1:p.Arg1035GlyfsTer?
NM_172057.2:c.2083_2100delinsGGGTCGGCGG , LRG_288t3:c.2083_2100delinsGGGTCGGCGG	NP_742054.1:p.Arg695GlyfsTer?
XM_011516185.1:c.2803_2820delinsGGGTCGGCGG	XP_011514487.1:p.Arg935GlyfsTer?
XM_011516185.2:c.2803_2820delinsGGGTCGGCGG	XP_011514487.1:p.Arg935GlyfsTer?
XM_017012195.1:c.2953_2970delinsGGGTCGGCGG	XP_016867684.1:p.Arg985GlyfsTer?
XM_017012196.1:c.2926_2943delinsGGGTCGGCGG	XP_016867685.1:p.Arg976GlyfsTer?
NM_000238.4:c.3103_3120delinsGGGTCGGCGG MANE Select	NP_000229.1:p.Arg1035GlyfsTer?
NM_172057.3:c.2083_2100delinsGGGTCGGCGG	NP_742054.1:p.Arg695GlyfsTer?