Canonical Allele Identifier: CA2695208648

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958421_150958428del , CM000669.2:g.150958421_150958428del	GRCh38
NC_000007.13:g.150655509_150655516del , CM000669.1:g.150655509_150655516del	GRCh37
NC_000007.12:g.150286442_150286449del	NCBI36
NG_008916.1:g.24501_24508del , LRG_288:g.24501_24508del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1382_1389del
ENST00000262186.10:c.549_556del MANE Select	ENSP00000262186.5:p.Gly184ArgfsTer?
ENST00000262186.9:c.549_556del	ENSP00000262186.5:p.Gly184ArgfsTer?
ENST00000430723.4:c.235-34_235-27del	ENSP00000387657.4:n.235-34_235-27del
ENST00000532957.5:n.772_779del
NM_000238.3:c.549_556del , LRG_288t1:c.549_556del	NP_000229.1:p.Gly184ArgfsTer?
NM_172056.2:c.549_556del , LRG_288t2:c.549_556del	NP_742053.1:p.Gly184ArgfsTer?
XM_011516185.1:c.249_256del	XP_011514487.1:p.Gly84ArgfsTer?
XM_011516186.1:c.549_556del	XP_011514488.1:p.Gly184ArgfsTer?
XM_011516185.2:c.249_256del	XP_011514487.1:p.Gly84ArgfsTer?
XM_011516186.3:c.549_556del	XP_011514488.1:p.Gly184ArgfsTer?
XM_017012195.1:c.399_406del	XP_016867684.1:p.Gly134ArgfsTer?
XM_017012196.1:c.372_379del	XP_016867685.1:p.Gly125ArgfsTer?
NM_000238.4:c.549_556del MANE Select	NP_000229.1:p.Gly184ArgfsTer?