Canonical Allele Identifier: CA658761326

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950335del , CM000669.2:g.150950335del	GRCh38
NC_000007.13:g.150647423del , CM000669.1:g.150647423del	GRCh37
NC_000007.12:g.150278356del	NCBI36
NG_008916.1:g.32592del , LRG_288:g.32592del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1529del
ENST00000684241.1:n.3064del
ENST00000262186.10:c.2231del MANE Select	ENSP00000262186.5:p.Arg744GlnfsTer13
ENST00000330883.9:c.1211del	ENSP00000328531.4:p.Arg404GlnfsTer13
ENST00000262186.9:c.2231del	ENSP00000262186.5:p.Arg744GlnfsTer13
ENST00000330883.8:c.1211del	ENSP00000328531.4:p.Arg404GlnfsTer13
ENST00000430723.4:c.1883del	ENSP00000387657.4:p.Arg628GlnfsTer13
ENST00000461280.1:n.1518del
ENST00000473610.5:n.1863del
ENST00000532957.5:n.2454del
NM_000238.3:c.2231del , LRG_288t1:c.2231del	NP_000229.1:p.Arg744GlnfsTer13
NM_001204798.1:c.1211del	NP_001191727.1:p.Arg404GlnfsTer13
NM_172056.2:c.2231del , LRG_288t2:c.2231del	NP_742053.1:p.Arg744GlnfsTer13
NM_172057.2:c.1211del , LRG_288t3:c.1211del	NP_742054.1:p.Arg404GlnfsTer13
XM_011516185.1:c.1931del	XP_011514487.1:p.Arg644GlnfsTer13
XM_011516186.1:c.2231del	XP_011514488.1:p.Arg744GlnfsTer13
XM_011516185.2:c.1931del	XP_011514487.1:p.Arg644GlnfsTer13
XM_011516186.3:c.2231del	XP_011514488.1:p.Arg744GlnfsTer13
XM_017012195.1:c.2081del	XP_016867684.1:p.Arg694GlnfsTer13
XM_017012196.1:c.2054del	XP_016867685.1:p.Arg685GlnfsTer13
NM_000238.4:c.2231del MANE Select	NP_000229.1:p.Arg744GlnfsTer13
NM_001204798.2:c.1211del	NP_001191727.1:p.Arg404GlnfsTer13
NM_172057.3:c.1211del	NP_742054.1:p.Arg404GlnfsTer13