Canonical Allele Identifier: CA1752409365

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951480_150951482delinsTTC , CM000669.2:g.150951480_150951482delinsTTC	GRCh38
NC_000007.13:g.150648568_150648570delinsTTC , CM000669.1:g.150648568_150648570delinsTTC	GRCh37
NC_000007.12:g.150279501_150279503delinsTTC	NCBI36
NG_008916.1:g.31445_31447delinsGAA , LRG_288:g.31445_31447delinsGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1209_1211delinsGAA
ENST00000683359.1:n.35_37delinsGAA
ENST00000684241.1:n.2744_2746delinsGAA
ENST00000262186.10:c.1911_1913delinsGAA MANE Select	ENSP00000262186.5:p.Glu637=
ENST00000330883.9:c.891_893delinsGAA	ENSP00000328531.4:p.Glu297=
ENST00000262186.9:c.1911_1913delinsGAA	ENSP00000262186.5:p.Glu637=
ENST00000330883.8:c.891_893delinsGAA	ENSP00000328531.4:p.Glu297=
ENST00000430723.4:c.1563_1565delinsGAA	ENSP00000387657.4:p.Glu521=
ENST00000461280.1:n.1198_1200delinsGAA
ENST00000473610.5:n.1216_1218delinsGAA
ENST00000532957.5:n.2134_2136delinsGAA
NM_000238.3:c.1911_1913delinsGAA , LRG_288t1:c.1911_1913delinsGAA	NP_000229.1:p.Glu637=
NM_001204798.1:c.891_893delinsGAA	NP_001191727.1:p.Glu297=
NM_172056.2:c.1911_1913delinsGAA , LRG_288t2:c.1911_1913delinsGAA	NP_742053.1:p.Glu637=
NM_172057.2:c.891_893delinsGAA , LRG_288t3:c.891_893delinsGAA	NP_742054.1:p.Glu297=
XM_011516185.1:c.1611_1613delinsGAA	XP_011514487.1:p.Glu537=
XM_011516186.1:c.1911_1913delinsGAA	XP_011514488.1:p.Glu637=
XM_011516185.2:c.1611_1613delinsGAA	XP_011514487.1:p.Glu537=
XM_011516186.3:c.1911_1913delinsGAA	XP_011514488.1:p.Glu637=
XM_017012195.1:c.1761_1763delinsGAA	XP_016867684.1:p.Glu587=
XM_017012196.1:c.1734_1736delinsGAA	XP_016867685.1:p.Glu578=
NM_000238.4:c.1911_1913delinsGAA MANE Select	NP_000229.1:p.Glu637=
NM_001204798.2:c.891_893delinsGAA	NP_001191727.1:p.Glu297=
NM_172057.3:c.891_893delinsGAA	NP_742054.1:p.Glu297=