Canonical Allele Identifier: CA2695208734

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952569del , CM000669.2:g.150952569del	GRCh38
NC_000007.13:g.150649657del , CM000669.1:g.150649657del	GRCh37
NC_000007.12:g.150280590del	NCBI36
NG_008916.1:g.30359del , LRG_288:g.30359del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.712del
ENST00000684116.1:n.307del
ENST00000684241.1:n.2247del
ENST00000262186.10:c.1414del MANE Select	ENSP00000262186.5:p.Arg472AlafsTer?
ENST00000330883.9:c.394del	ENSP00000328531.4:p.Arg132AlafsTer?
ENST00000262186.9:c.1414del	ENSP00000262186.5:p.Arg472AlafsTer?
ENST00000330883.8:c.394del	ENSP00000328531.4:p.Arg132AlafsTer?
ENST00000430723.4:c.1066del	ENSP00000387657.4:p.Arg356AlafsTer?
ENST00000461280.1:n.701del
ENST00000473610.5:n.719del
ENST00000532957.5:n.1637del
NM_000238.3:c.1414del , LRG_288t1:c.1414del	NP_000229.1:p.Arg472AlafsTer?
NM_001204798.1:c.394del	NP_001191727.1:p.Arg132AlafsTer?
NM_172056.2:c.1414del , LRG_288t2:c.1414del	NP_742053.1:p.Arg472AlafsTer?
NM_172057.2:c.394del , LRG_288t3:c.394del	NP_742054.1:p.Arg132AlafsTer?
XM_011516185.1:c.1114del	XP_011514487.1:p.Arg372AlafsTer?
XM_011516186.1:c.1414del	XP_011514488.1:p.Arg472AlafsTer?
XM_011516185.2:c.1114del	XP_011514487.1:p.Arg372AlafsTer?
XM_011516186.3:c.1414del	XP_011514488.1:p.Arg472AlafsTer?
XM_017012195.1:c.1264del	XP_016867684.1:p.Arg422AlafsTer?
XM_017012196.1:c.1237del	XP_016867685.1:p.Arg413AlafsTer?
NM_000238.4:c.1414del MANE Select	NP_000229.1:p.Arg472AlafsTer?
NM_001204798.2:c.394del	NP_001191727.1:p.Arg132AlafsTer?
NM_172057.3:c.394del	NP_742054.1:p.Arg132AlafsTer?