Canonical Allele Identifier: CA2695208636

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958219_150958221del , CM000669.2:g.150958219_150958221del	GRCh38
NC_000007.13:g.150655307_150655309del , CM000669.1:g.150655307_150655309del	GRCh37
NC_000007.12:g.150286240_150286242del	NCBI36
NG_008916.1:g.24706_24708del , LRG_288:g.24706_24708del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1587_1589del
ENST00000262186.10:c.754_756del MANE Select	ENSP00000262186.5:p.Arg252del
ENST00000262186.9:c.754_756del	ENSP00000262186.5:p.Arg252del
ENST00000430723.4:c.406_408del	ENSP00000387657.4:p.Arg136del
ENST00000532957.5:n.977_979del
NM_000238.3:c.754_756del , LRG_288t1:c.754_756del	NP_000229.1:p.Arg252del
NM_172056.2:c.754_756del , LRG_288t2:c.754_756del	NP_742053.1:p.Arg252del
XM_011516185.1:c.454_456del	XP_011514487.1:p.Arg152del
XM_011516186.1:c.754_756del	XP_011514488.1:p.Arg252del
XM_011516185.2:c.454_456del	XP_011514487.1:p.Arg152del
XM_011516186.3:c.754_756del	XP_011514488.1:p.Arg252del
XM_017012195.1:c.604_606del	XP_016867684.1:p.Arg202del
XM_017012196.1:c.577_579del	XP_016867685.1:p.Arg193del
NM_000238.4:c.754_756del MANE Select	NP_000229.1:p.Arg252del