Canonical Allele Identifier: CA2579988140

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958113_150958128del , CM000669.2:g.150958113_150958128del	GRCh38
NC_000007.13:g.150655201_150655216del , CM000669.1:g.150655201_150655216del	GRCh37
NC_000007.12:g.150286134_150286149del	NCBI36
NG_008916.1:g.24802_24817del , LRG_288:g.24802_24817del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1683_1698del
ENST00000262186.10:c.850_865del MANE Select	ENSP00000262186.5:p.Ser284ArgfsTer?
ENST00000262186.9:c.850_865del	ENSP00000262186.5:p.Ser284ArgfsTer?
ENST00000430723.4:c.502_517del	ENSP00000387657.4:p.Ser168ArgfsTer?
ENST00000532957.5:n.1073_1088del
NM_000238.3:c.850_865del , LRG_288t1:c.850_865del	NP_000229.1:p.Ser284ArgfsTer?
NM_172056.2:c.850_865del , LRG_288t2:c.850_865del	NP_742053.1:p.Ser284ArgfsTer?
XM_011516185.1:c.550_565del	XP_011514487.1:p.Ser184ArgfsTer?
XM_011516186.1:c.850_865del	XP_011514488.1:p.Ser284ArgfsTer?
XM_011516185.2:c.550_565del	XP_011514487.1:p.Ser184ArgfsTer?
XM_011516186.3:c.850_865del	XP_011514488.1:p.Ser284ArgfsTer?
XM_017012195.1:c.700_715del	XP_016867684.1:p.Ser234ArgfsTer?
XM_017012196.1:c.673_688del	XP_016867685.1:p.Ser225ArgfsTer?
NM_000238.4:c.850_865del MANE Select	NP_000229.1:p.Ser284ArgfsTer?