Canonical Allele Identifier: CA2695208623

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957415del , CM000669.2:g.150957415del	GRCh38
NC_000007.13:g.150654503del , CM000669.1:g.150654503del	GRCh37
NC_000007.12:g.150285436del	NCBI36
NG_008916.1:g.25514del , LRG_288:g.25514del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1839del
ENST00000262186.10:c.1006del MANE Select	ENSP00000262186.5:p.Ile336SerfsTer24
ENST00000262186.9:c.1006del	ENSP00000262186.5:p.Ile336SerfsTer24
ENST00000430723.4:c.658del	ENSP00000387657.4:p.Ile220SerfsTer24
ENST00000532957.5:n.1229del
NM_000238.3:c.1006del , LRG_288t1:c.1006del	NP_000229.1:p.Ile336SerfsTer24
NM_172056.2:c.1006del , LRG_288t2:c.1006del	NP_742053.1:p.Ile336SerfsTer24
XM_011516185.1:c.706del	XP_011514487.1:p.Ile236SerfsTer24
XM_011516186.1:c.1006del	XP_011514488.1:p.Ile336SerfsTer24
XM_011516185.2:c.706del	XP_011514487.1:p.Ile236SerfsTer24
XM_011516186.3:c.1006del	XP_011514488.1:p.Ile336SerfsTer24
XM_017012195.1:c.856del	XP_016867684.1:p.Ile286SerfsTer24
XM_017012196.1:c.829del	XP_016867685.1:p.Ile277SerfsTer24
NM_000238.4:c.1006del MANE Select	NP_000229.1:p.Ile336SerfsTer24