Canonical Allele Identifier: CA2840112071

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958382_150958383del , CM000669.2:g.150958382_150958383del	GRCh38
NC_000007.13:g.150655470_150655471del , CM000669.1:g.150655470_150655471del	GRCh37
NC_000007.12:g.150286403_150286404del	NCBI36
NG_008916.1:g.24545_24546del , LRG_288:g.24545_24546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1426_1427del
ENST00000262186.10:c.593_594del MANE Select	ENSP00000262186.5:p.Val198GlyfsTer?
ENST00000262186.9:c.593_594del	ENSP00000262186.5:p.Val198GlyfsTer?
ENST00000430723.4:c.245_246del	ENSP00000387657.4:p.Val82GlyfsTer?
ENST00000532957.5:n.816_817del
NM_000238.3:c.593_594del , LRG_288t1:c.593_594del	NP_000229.1:p.Val198GlyfsTer?
NM_172056.2:c.593_594del , LRG_288t2:c.593_594del	NP_742053.1:p.Val198GlyfsTer?
XM_011516185.1:c.293_294del	XP_011514487.1:p.Val98GlyfsTer?
XM_011516186.1:c.593_594del	XP_011514488.1:p.Val198GlyfsTer?
XM_011516185.2:c.293_294del	XP_011514487.1:p.Val98GlyfsTer?
XM_011516186.3:c.593_594del	XP_011514488.1:p.Val198GlyfsTer?
XM_017012195.1:c.443_444del	XP_016867684.1:p.Val148GlyfsTer?
XM_017012196.1:c.416_417del	XP_016867685.1:p.Val139GlyfsTer?
NM_000238.4:c.593_594del MANE Select	NP_000229.1:p.Val198GlyfsTer?