Canonical Allele Identifier: CA031701

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950215C>T , CM000669.2:g.150950215C>T	GRCh38
NC_000007.13:g.150647303C>T , CM000669.1:g.150647303C>T	GRCh37
NC_000007.12:g.150278236C>T	NCBI36
NG_008916.1:g.32712G>A , LRG_288:g.32712G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000238.4:c.2351G>A MANE Select	NP_000229.1:p.Arg784Gln
ENST00000262186.10:c.2351G>A MANE Select	ENSP00000262186.5:p.Arg784Gln
NM_000238.3:c.2351G>A , LRG_288t1:c.2351G>A	NP_000229.1:p.Arg784Gln
NM_001204798.1:c.1331G>A	NP_001191727.1:p.Arg444Gln
NM_001204798.2:c.1331G>A	NP_001191727.1:p.Arg444Gln
NM_172056.2:c.2351G>A , LRG_288t2:c.2351G>A	NP_742053.1:p.Arg784Gln
NM_172057.2:c.1331G>A , LRG_288t3:c.1331G>A	NP_742054.1:p.Arg444Gln
NM_172057.3:c.1331G>A	NP_742054.1:p.Arg444Gln
ENST00000262186.9:c.2351G>A	ENSP00000262186.5:p.Arg784Gln
ENST00000330883.8:c.1331G>A	ENSP00000328531.4:p.Arg444Gln
ENST00000330883.9:c.1331G>A	ENSP00000328531.4:p.Arg444Gln
ENST00000430723.4:c.2003G>A	ENSP00000387657.4:p.Arg668Gln
ENST00000461280.1:n.1638G>A
ENST00000461280.2:n.1649G>A
ENST00000473610.5:n.1983G>A
ENST00000532957.5:n.2574G>A
ENST00000684241.1:n.3184G>A
XM_011516185.1:c.2051G>A	XP_011514487.1:p.Arg684Gln
XM_011516185.2:c.2051G>A	XP_011514487.1:p.Arg684Gln
XM_011516186.1:c.2351G>A	XP_011514488.1:p.Arg784Gln
XM_011516186.3:c.2351G>A	XP_011514488.1:p.Arg784Gln
XM_017012195.1:c.2201G>A	XP_016867684.1:p.Arg734Gln
XM_017012196.1:c.2174G>A	XP_016867685.1:p.Arg725Gln