Canonical Allele Identifier: CA2739279285

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2819054
• ClinVar RCV Id: RCV003648239

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947383_150947384delinsAT , CM000669.2:g.150947383_150947384delinsAT	GRCh38
NC_000007.13:g.150644471_150644472delinsAT , CM000669.1:g.150644471_150644472delinsAT	GRCh37
NC_000007.12:g.150275404_150275405delinsAT	NCBI36
NG_008916.1:g.35543_35544delinsAT , LRG_288:g.35543_35544delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3929_3930delinsAT
ENST00000262186.10:c.3096_3097delinsAT MANE Select	ENSP00000262186.5:p.Arg1033Trp
ENST00000330883.9:c.2076_2077delinsAT	ENSP00000328531.4:p.Arg693Trp
ENST00000262186.9:c.3096_3097delinsAT	ENSP00000262186.5:p.Arg1033Trp
ENST00000330883.8:c.2076_2077delinsAT	ENSP00000328531.4:p.Arg693Trp
NM_000238.3:c.3096_3097delinsAT , LRG_288t1:c.3096_3097delinsAT	NP_000229.1:p.Arg1033Trp
NM_172057.2:c.2076_2077delinsAT , LRG_288t3:c.2076_2077delinsAT	NP_742054.1:p.Arg693Trp
XM_011516185.1:c.2796_2797delinsAT	XP_011514487.1:p.Arg933Trp
XM_011516185.2:c.2796_2797delinsAT	XP_011514487.1:p.Arg933Trp
XM_017012195.1:c.2946_2947delinsAT	XP_016867684.1:p.Arg983Trp
XM_017012196.1:c.2919_2920delinsAT	XP_016867685.1:p.Arg974Trp
NM_000238.4:c.3096_3097delinsAT MANE Select	NP_000229.1:p.Arg1033Trp
NM_172057.3:c.2076_2077delinsAT	NP_742054.1:p.Arg693Trp