Canonical Allele Identifier: CA2580077780

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1794263
• ClinVar RCV Id: RCV002453022

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948489del , CM000669.2:g.150948489del	GRCh38
NC_000007.13:g.150645577del , CM000669.1:g.150645577del	GRCh37
NC_000007.12:g.150276510del	NCBI36
NG_008916.1:g.34438del , LRG_288:g.34438del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3480del
ENST00000262186.10:c.2647del MANE Select	ENSP00000262186.5:p.Arg883GlyfsTer?
ENST00000330883.9:c.1627del	ENSP00000328531.4:p.Arg543GlyfsTer?
ENST00000262186.9:c.2647del	ENSP00000262186.5:p.Arg883GlyfsTer?
ENST00000330883.8:c.1627del	ENSP00000328531.4:p.Arg543GlyfsTer?
NM_000238.3:c.2647del , LRG_288t1:c.2647del	NP_000229.1:p.Arg883GlyfsTer?
NM_172057.2:c.1627del , LRG_288t3:c.1627del	NP_742054.1:p.Arg543GlyfsTer?
XM_011516185.1:c.2347del	XP_011514487.1:p.Arg783GlyfsTer?
XM_011516186.1:c.2647del	XP_011514488.1:p.Arg883GlyfsTer?
XM_011516185.2:c.2347del	XP_011514487.1:p.Arg783GlyfsTer?
XM_011516186.3:c.2647del	XP_011514488.1:p.Arg883GlyfsTer?
XM_017012195.1:c.2497del	XP_016867684.1:p.Arg833GlyfsTer?
XM_017012196.1:c.2470del	XP_016867685.1:p.Arg824GlyfsTer?
NM_000238.4:c.2647del MANE Select	NP_000229.1:p.Arg883GlyfsTer?
NM_172057.3:c.1627del	NP_742054.1:p.Arg543GlyfsTer?