Canonical Allele Identifier: CA2695208627

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957494del , CM000669.2:g.150957494del	GRCh38
NC_000007.13:g.150654582del , CM000669.1:g.150654582del	GRCh37
NC_000007.12:g.150285515del	NCBI36
NG_008916.1:g.25433del , LRG_288:g.25433del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1758del
ENST00000262186.10:c.925del MANE Select	ENSP00000262186.5:p.His309ThrfsTer?
ENST00000262186.9:c.925del	ENSP00000262186.5:p.His309ThrfsTer?
ENST00000430723.4:c.577del	ENSP00000387657.4:p.His193ThrfsTer?
ENST00000532957.5:n.1148del
NM_000238.3:c.925del , LRG_288t1:c.925del	NP_000229.1:p.His309ThrfsTer?
NM_172056.2:c.925del , LRG_288t2:c.925del	NP_742053.1:p.His309ThrfsTer?
XM_011516185.1:c.625del	XP_011514487.1:p.His209ThrfsTer?
XM_011516186.1:c.925del	XP_011514488.1:p.His309ThrfsTer?
XM_011516185.2:c.625del	XP_011514487.1:p.His209ThrfsTer?
XM_011516186.3:c.925del	XP_011514488.1:p.His309ThrfsTer?
XM_017012195.1:c.775del	XP_016867684.1:p.His259ThrfsTer?
XM_017012196.1:c.748del	XP_016867685.1:p.His250ThrfsTer?
NM_000238.4:c.925del MANE Select	NP_000229.1:p.His309ThrfsTer?