Canonical Allele Identifier: CA2527324314

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950144del , CM000669.2:g.150950144del	GRCh38
NC_000007.13:g.150647232del , CM000669.1:g.150647232del	GRCh37
NC_000007.12:g.150278165del	NCBI36
NG_008916.1:g.32784del , LRG_288:g.32784del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1721del
ENST00000684241.1:n.3231+25del
ENST00000262186.10:c.2398+25del MANE Select	ENSP00000262186.5:n.2398+25del
ENST00000330883.9:c.1378+25del	ENSP00000328531.4:n.1378+25del
ENST00000262186.9:c.2398+25del	ENSP00000262186.5:n.2398+25del
ENST00000330883.8:c.1378+25del	ENSP00000328531.4:n.1378+25del
ENST00000430723.4:c.2075del	ENSP00000387657.4:p.Gly692AspfsTer15
ENST00000461280.1:n.1710del
ENST00000473610.5:n.2055del
ENST00000532957.5:n.2646del
NM_000238.3:c.2398+25del , LRG_288t1:c.2398+25del	NP_000229.1:n.2398+25del
NM_001204798.1:c.1403del	NP_001191727.1:p.Gly468AspfsTer15
NM_172056.2:c.2423del , LRG_288t2:c.2423del	NP_742053.1:p.Gly808AspfsTer15
NM_172057.2:c.1378+25del , LRG_288t3:c.1378+25del	NP_742054.1:n.1378+25del
XM_011516185.1:c.2098+25del	XP_011514487.1:n.2098+25del
XM_011516186.1:c.2398+25del	XP_011514488.1:n.2398+25del
XM_011516185.2:c.2098+25del	XP_011514487.1:n.2098+25del
XM_011516186.3:c.2398+25del	XP_011514488.1:n.2398+25del
XM_017012195.1:c.2248+25del	XP_016867684.1:n.2248+25del
XM_017012196.1:c.2221+25del	XP_016867685.1:n.2221+25del
NM_000238.4:c.2398+25del MANE Select	NP_000229.1:n.2398+25del
NM_001204798.2:c.1403del	NP_001191727.1:p.Gly468AspfsTer15
NM_172057.3:c.1378+25del	NP_742054.1:n.1378+25del