Canonical Allele Identifier: CA2542784211

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959688del , CM000669.2:g.150959688del	GRCh38
NC_000007.13:g.150656776del , CM000669.1:g.150656776del	GRCh37
NC_000007.12:g.150287709del	NCBI36
NG_008916.1:g.23239del , LRG_288:g.23239del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1189del
ENST00000262186.10:c.356del MANE Select	ENSP00000262186.5:p.Asp119ValfsTer14
ENST00000262186.9:c.356del	ENSP00000262186.5:p.Asp119ValfsTer14
ENST00000430723.4:c.179del	ENSP00000387657.4:p.Asp60ValfsTer14
ENST00000532957.5:n.579del
NM_000238.3:c.356del , LRG_288t1:c.356del	NP_000229.1:p.Asp119ValfsTer14
NM_172056.2:c.356del , LRG_288t2:c.356del	NP_742053.1:p.Asp119ValfsTer14
XM_011516185.1:c.56del	XP_011514487.1:p.Asp19ValfsTer14
XM_011516186.1:c.356del	XP_011514488.1:p.Asp119ValfsTer14
XM_011516185.2:c.56del	XP_011514487.1:p.Asp19ValfsTer14
XM_011516186.3:c.356del	XP_011514488.1:p.Asp119ValfsTer14
XM_017012195.1:c.206del	XP_016867684.1:p.Asp69ValfsTer14
XM_017012196.1:c.179del	XP_016867685.1:p.Asp60ValfsTer14
NM_000238.4:c.356del MANE Select	NP_000229.1:p.Asp119ValfsTer14