Canonical Allele Identifier: CA2695208695

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947009_150947018del , CM000669.2:g.150947009_150947018del	GRCh38
NC_000007.13:g.150644097_150644106del , CM000669.1:g.150644097_150644106del	GRCh37
NC_000007.12:g.150275030_150275039del	NCBI36
NG_008916.1:g.35910_35919del , LRG_288:g.35910_35919del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4023_4032del
ENST00000262186.10:c.3190_3199del MANE Select	ENSP00000262186.5:p.Leu1064TyrfsTer5
ENST00000330883.9:c.2170_2179del	ENSP00000328531.4:p.Leu724TyrfsTer5
ENST00000262186.9:c.3190_3199del	ENSP00000262186.5:p.Leu1064TyrfsTer5
ENST00000330883.8:c.2170_2179del	ENSP00000328531.4:p.Leu724TyrfsTer5
NM_000238.3:c.3190_3199del , LRG_288t1:c.3190_3199del	NP_000229.1:p.Leu1064TyrfsTer5
NM_172057.2:c.2170_2179del , LRG_288t3:c.2170_2179del	NP_742054.1:p.Leu724TyrfsTer5
XM_011516185.1:c.2890_2899del	XP_011514487.1:p.Leu964TyrfsTer5
XM_011516185.2:c.2890_2899del	XP_011514487.1:p.Leu964TyrfsTer5
XM_017012195.1:c.3040_3049del	XP_016867684.1:p.Leu1014TyrfsTer5
XM_017012196.1:c.3013_3022del	XP_016867685.1:p.Leu1005TyrfsTer5
NM_000238.4:c.3190_3199del MANE Select	NP_000229.1:p.Leu1064TyrfsTer5
NM_172057.3:c.2170_2179del	NP_742054.1:p.Leu724TyrfsTer5