Canonical Allele Identifier: CA2695208782

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947370_150947379del , CM000669.2:g.150947370_150947379del	GRCh38
NC_000007.13:g.150644458_150644467del , CM000669.1:g.150644458_150644467del	GRCh37
NC_000007.12:g.150275391_150275400del	NCBI36
NG_008916.1:g.35549_35558del , LRG_288:g.35549_35558del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3935_3944del
ENST00000262186.10:c.3102_3111del MANE Select	ENSP00000262186.5:p.Arg1035TrpfsTer19
ENST00000330883.9:c.2082_2091del	ENSP00000328531.4:p.Arg695TrpfsTer19
ENST00000262186.9:c.3102_3111del	ENSP00000262186.5:p.Arg1035TrpfsTer19
ENST00000330883.8:c.2082_2091del	ENSP00000328531.4:p.Arg695TrpfsTer19
NM_000238.3:c.3102_3111del , LRG_288t1:c.3102_3111del	NP_000229.1:p.Arg1035TrpfsTer19
NM_172057.2:c.2082_2091del , LRG_288t3:c.2082_2091del	NP_742054.1:p.Arg695TrpfsTer19
XM_011516185.1:c.2802_2811del	XP_011514487.1:p.Arg935TrpfsTer19
XM_011516185.2:c.2802_2811del	XP_011514487.1:p.Arg935TrpfsTer19
XM_017012195.1:c.2952_2961del	XP_016867684.1:p.Arg985TrpfsTer19
XM_017012196.1:c.2925_2934del	XP_016867685.1:p.Arg976TrpfsTer19
NM_000238.4:c.3102_3111del MANE Select	NP_000229.1:p.Arg1035TrpfsTer19
NM_172057.3:c.2082_2091del	NP_742054.1:p.Arg695TrpfsTer19