Canonical Allele Identifier: CA2502904117

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952650_150952653del , CM000669.2:g.150952650_150952653del	GRCh38
NC_000007.13:g.150649738_150649741del , CM000669.1:g.150649738_150649741del	GRCh37
NC_000007.12:g.150280671_150280674del	NCBI36
NG_008916.1:g.30274_30277del , LRG_288:g.30274_30277del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.627_630del
ENST00000684116.1:n.222_225del
ENST00000684241.1:n.2162_2165del
ENST00000262186.10:c.1329_1332del MANE Select	ENSP00000262186.5:p.Glu444ValfsTer?
ENST00000330883.9:c.309_312del	ENSP00000328531.4:p.Glu104ValfsTer?
ENST00000262186.9:c.1329_1332del	ENSP00000262186.5:p.Glu444ValfsTer?
ENST00000330883.8:c.309_312del	ENSP00000328531.4:p.Glu104ValfsTer?
ENST00000430723.4:c.981_984del	ENSP00000387657.4:p.Glu328ValfsTer?
ENST00000461280.1:n.616_619del
ENST00000473610.5:n.634_637del
ENST00000532957.5:n.1552_1555del
NM_000238.3:c.1329_1332del , LRG_288t1:c.1329_1332del	NP_000229.1:p.Glu444ValfsTer?
NM_001204798.1:c.309_312del	NP_001191727.1:p.Glu104ValfsTer?
NM_172056.2:c.1329_1332del , LRG_288t2:c.1329_1332del	NP_742053.1:p.Glu444ValfsTer?
NM_172057.2:c.309_312del , LRG_288t3:c.309_312del	NP_742054.1:p.Glu104ValfsTer?
XM_011516185.1:c.1029_1032del	XP_011514487.1:p.Glu344ValfsTer?
XM_011516186.1:c.1329_1332del	XP_011514488.1:p.Glu444ValfsTer?
XM_011516185.2:c.1029_1032del	XP_011514487.1:p.Glu344ValfsTer?
XM_011516186.3:c.1329_1332del	XP_011514488.1:p.Glu444ValfsTer?
XM_017012195.1:c.1179_1182del	XP_016867684.1:p.Glu394ValfsTer?
XM_017012196.1:c.1152_1155del	XP_016867685.1:p.Glu385ValfsTer?
NM_000238.4:c.1329_1332del MANE Select	NP_000229.1:p.Glu444ValfsTer?
NM_001204798.2:c.309_312del	NP_001191727.1:p.Glu104ValfsTer?
NM_172057.3:c.309_312del	NP_742054.1:p.Glu104ValfsTer?