Canonical Allele Identifier: CA2695208744

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952716del , CM000669.2:g.150952716del	GRCh38
NC_000007.13:g.150649804del , CM000669.1:g.150649804del	GRCh37
NC_000007.12:g.150280737del	NCBI36
NG_008916.1:g.30211del , LRG_288:g.30211del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.564del
ENST00000684116.1:n.159del
ENST00000684241.1:n.2099del
ENST00000262186.10:c.1266del MANE Select	ENSP00000262186.5:p.Val423SerfsTer11
ENST00000330883.9:c.246del	ENSP00000328531.4:p.Val83SerfsTer11
ENST00000262186.9:c.1266del	ENSP00000262186.5:p.Val423SerfsTer11
ENST00000330883.8:c.246del	ENSP00000328531.4:p.Val83SerfsTer11
ENST00000430723.4:c.918del	ENSP00000387657.4:p.Val307SerfsTer11
ENST00000461280.1:n.553del
ENST00000473610.5:n.571del
ENST00000532957.5:n.1489del
NM_000238.3:c.1266del , LRG_288t1:c.1266del	NP_000229.1:p.Val423SerfsTer11
NM_001204798.1:c.246del	NP_001191727.1:p.Val83SerfsTer11
NM_172056.2:c.1266del , LRG_288t2:c.1266del	NP_742053.1:p.Val423SerfsTer11
NM_172057.2:c.246del , LRG_288t3:c.246del	NP_742054.1:p.Val83SerfsTer11
XM_011516185.1:c.966del	XP_011514487.1:p.Val323SerfsTer11
XM_011516186.1:c.1266del	XP_011514488.1:p.Val423SerfsTer11
XM_011516185.2:c.966del	XP_011514487.1:p.Val323SerfsTer11
XM_011516186.3:c.1266del	XP_011514488.1:p.Val423SerfsTer11
XM_017012195.1:c.1116del	XP_016867684.1:p.Val373SerfsTer11
XM_017012196.1:c.1089del	XP_016867685.1:p.Val364SerfsTer11
NM_000238.4:c.1266del MANE Select	NP_000229.1:p.Val423SerfsTer11
NM_001204798.2:c.246del	NP_001191727.1:p.Val83SerfsTer11
NM_172057.3:c.246del	NP_742054.1:p.Val83SerfsTer11