Canonical Allele Identifier: CA2695208714

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951062del , CM000669.2:g.150951062del	GRCh38
NC_000007.13:g.150648150del , CM000669.1:g.150648150del	GRCh37
NC_000007.12:g.150279083del	NCBI36
NG_008916.1:g.31867del , LRG_288:g.31867del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1304del
ENST00000683359.1:n.130del
ENST00000684241.1:n.2839del
ENST00000262186.10:c.2006del MANE Select	ENSP00000262186.5:p.Gly669AlafsTer?
ENST00000330883.9:c.986del	ENSP00000328531.4:p.Gly329AlafsTer?
ENST00000262186.9:c.2006del	ENSP00000262186.5:p.Gly669AlafsTer?
ENST00000330883.8:c.986del	ENSP00000328531.4:p.Gly329AlafsTer?
ENST00000430723.4:c.1658del	ENSP00000387657.4:p.Gly553AlafsTer?
ENST00000461280.1:n.1293del
ENST00000473610.5:n.1638del
ENST00000532957.5:n.2229del
NM_000238.3:c.2006del , LRG_288t1:c.2006del	NP_000229.1:p.Gly669AlafsTer?
NM_001204798.1:c.986del	NP_001191727.1:p.Gly329AlafsTer?
NM_172056.2:c.2006del , LRG_288t2:c.2006del	NP_742053.1:p.Gly669AlafsTer?
NM_172057.2:c.986del , LRG_288t3:c.986del	NP_742054.1:p.Gly329AlafsTer?
XM_011516185.1:c.1706del	XP_011514487.1:p.Gly569AlafsTer?
XM_011516186.1:c.2006del	XP_011514488.1:p.Gly669AlafsTer?
XM_011516185.2:c.1706del	XP_011514487.1:p.Gly569AlafsTer?
XM_011516186.3:c.2006del	XP_011514488.1:p.Gly669AlafsTer?
XM_017012195.1:c.1856del	XP_016867684.1:p.Gly619AlafsTer?
XM_017012196.1:c.1829del	XP_016867685.1:p.Gly610AlafsTer?
NM_000238.4:c.2006del MANE Select	NP_000229.1:p.Gly669AlafsTer?
NM_001204798.2:c.986del	NP_001191727.1:p.Gly329AlafsTer?
NM_172057.3:c.986del	NP_742054.1:p.Gly329AlafsTer?