Canonical Allele Identifier: CA2695208736

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952622del , CM000669.2:g.150952622del	GRCh38
NC_000007.13:g.150649710del , CM000669.1:g.150649710del	GRCh37
NC_000007.12:g.150280643del	NCBI36
NG_008916.1:g.30305del , LRG_288:g.30305del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.658del
ENST00000684116.1:n.253del
ENST00000684241.1:n.2193del
ENST00000262186.10:c.1360del MANE Select	ENSP00000262186.5:p.Val454TrpfsTer?
ENST00000330883.9:c.340del	ENSP00000328531.4:p.Val114TrpfsTer?
ENST00000262186.9:c.1360del	ENSP00000262186.5:p.Val454TrpfsTer?
ENST00000330883.8:c.340del	ENSP00000328531.4:p.Val114TrpfsTer?
ENST00000430723.4:c.1012del	ENSP00000387657.4:p.Val338TrpfsTer?
ENST00000461280.1:n.647del
ENST00000473610.5:n.665del
ENST00000532957.5:n.1583del
NM_000238.3:c.1360del , LRG_288t1:c.1360del	NP_000229.1:p.Val454TrpfsTer?
NM_001204798.1:c.340del	NP_001191727.1:p.Val114TrpfsTer?
NM_172056.2:c.1360del , LRG_288t2:c.1360del	NP_742053.1:p.Val454TrpfsTer?
NM_172057.2:c.340del , LRG_288t3:c.340del	NP_742054.1:p.Val114TrpfsTer?
XM_011516185.1:c.1060del	XP_011514487.1:p.Val354TrpfsTer?
XM_011516186.1:c.1360del	XP_011514488.1:p.Val454TrpfsTer?
XM_011516185.2:c.1060del	XP_011514487.1:p.Val354TrpfsTer?
XM_011516186.3:c.1360del	XP_011514488.1:p.Val454TrpfsTer?
XM_017012195.1:c.1210del	XP_016867684.1:p.Val404TrpfsTer?
XM_017012196.1:c.1183del	XP_016867685.1:p.Val395TrpfsTer?
NM_000238.4:c.1360del MANE Select	NP_000229.1:p.Val454TrpfsTer?
NM_001204798.2:c.340del	NP_001191727.1:p.Val114TrpfsTer?
NM_172057.3:c.340del	NP_742054.1:p.Val114TrpfsTer?