Canonical Allele Identifier: CA645565639

Gene: KCNH2

Linked Data

• COSMIC: COSM4515778 ; COSM4515779 ; COSM4515780

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952679_150952680delinsTT , CM000669.2:g.150952679_150952680delinsTT	GRCh38
NC_000007.13:g.150649767_150649768delinsTT , CM000669.1:g.150649767_150649768delinsTT	GRCh37
NC_000007.12:g.150280700_150280701delinsTT	NCBI36
NG_008916.1:g.30247_30248delinsAA , LRG_288:g.30247_30248delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.600_601delinsAA
ENST00000684116.1:n.195_196delinsAA
ENST00000684241.1:n.2135_2136delinsAA
ENST00000262186.10:c.1302_1303delinsAA MANE Select	ENSP00000262186.5:p.Glu435Lys
ENST00000330883.9:c.282_283delinsAA	ENSP00000328531.4:p.Glu95Lys
ENST00000262186.9:c.1302_1303delinsAA	ENSP00000262186.5:p.Glu435Lys
ENST00000330883.8:c.282_283delinsAA	ENSP00000328531.4:p.Glu95Lys
ENST00000430723.4:c.954_955delinsAA	ENSP00000387657.4:p.Glu319Lys
ENST00000461280.1:n.589_590delinsAA
ENST00000473610.5:n.607_608delinsAA
ENST00000532957.5:n.1525_1526delinsAA
NM_000238.3:c.1302_1303delinsAA , LRG_288t1:c.1302_1303delinsAA	NP_000229.1:p.Glu435Lys
NM_001204798.1:c.282_283delinsAA	NP_001191727.1:p.Glu95Lys
NM_172056.2:c.1302_1303delinsAA , LRG_288t2:c.1302_1303delinsAA	NP_742053.1:p.Glu435Lys
NM_172057.2:c.282_283delinsAA , LRG_288t3:c.282_283delinsAA	NP_742054.1:p.Glu95Lys
XM_011516185.1:c.1002_1003delinsAA	XP_011514487.1:p.Glu335Lys
XM_011516186.1:c.1302_1303delinsAA	XP_011514488.1:p.Glu435Lys
XM_011516185.2:c.1002_1003delinsAA	XP_011514487.1:p.Glu335Lys
XM_011516186.3:c.1302_1303delinsAA	XP_011514488.1:p.Glu435Lys
XM_017012195.1:c.1152_1153delinsAA	XP_016867684.1:p.Glu385Lys
XM_017012196.1:c.1125_1126delinsAA	XP_016867685.1:p.Glu376Lys
NM_000238.4:c.1302_1303delinsAA MANE Select	NP_000229.1:p.Glu435Lys
NM_001204798.2:c.282_283delinsAA	NP_001191727.1:p.Glu95Lys
NM_172057.3:c.282_283delinsAA	NP_742054.1:p.Glu95Lys