Canonical Allele Identifier: CA923726284

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952757_150952758insATTAC , CM000669.2:g.150952757_150952758insATTAC	GRCh38
NC_000007.13:g.150649845_150649846insATTAC , CM000669.1:g.150649845_150649846insATTAC	GRCh37
NC_000007.12:g.150280778_150280779insATTAC	NCBI36
NG_008916.1:g.30171_30172insAATGT , LRG_288:g.30171_30172insAATGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.524_525insAATGT
ENST00000684116.1:n.119_120insAATGT
ENST00000684241.1:n.2059_2060insAATGT
ENST00000262186.10:c.1226_1227insAATGT MANE Select	ENSP00000262186.5:p.Trp410MetfsTer26
ENST00000330883.9:c.206_207insAATGT	ENSP00000328531.4:p.Trp70MetfsTer26
ENST00000262186.9:c.1226_1227insAATGT	ENSP00000262186.5:p.Trp410MetfsTer26
ENST00000330883.8:c.206_207insAATGT	ENSP00000328531.4:p.Trp70MetfsTer26
ENST00000430723.4:c.878_879insAATGT	ENSP00000387657.4:p.Trp294MetfsTer26
ENST00000461280.1:n.513_514insAATGT
ENST00000473610.5:n.531_532insAATGT
ENST00000532957.5:n.1449_1450insAATGT
NM_000238.3:c.1226_1227insAATGT , LRG_288t1:c.1226_1227insAATGT	NP_000229.1:p.Trp410MetfsTer26
NM_001204798.1:c.206_207insAATGT	NP_001191727.1:p.Trp70MetfsTer26
NM_172056.2:c.1226_1227insAATGT , LRG_288t2:c.1226_1227insAATGT	NP_742053.1:p.Trp410MetfsTer26
NM_172057.2:c.206_207insAATGT , LRG_288t3:c.206_207insAATGT	NP_742054.1:p.Trp70MetfsTer26
XM_011516185.1:c.926_927insAATGT	XP_011514487.1:p.Trp310MetfsTer26
XM_011516186.1:c.1226_1227insAATGT	XP_011514488.1:p.Trp410MetfsTer26
XM_011516185.2:c.926_927insAATGT	XP_011514487.1:p.Trp310MetfsTer26
XM_011516186.3:c.1226_1227insAATGT	XP_011514488.1:p.Trp410MetfsTer26
XM_017012195.1:c.1076_1077insAATGT	XP_016867684.1:p.Trp360MetfsTer26
XM_017012196.1:c.1049_1050insAATGT	XP_016867685.1:p.Trp351MetfsTer26
NM_000238.4:c.1226_1227insAATGT MANE Select	NP_000229.1:p.Trp410MetfsTer26
NM_001204798.2:c.206_207insAATGT	NP_001191727.1:p.Trp70MetfsTer26
NM_172057.3:c.206_207insAATGT	NP_742054.1:p.Trp70MetfsTer26