Canonical Allele Identifier: CA2967120564

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950118del , CM000669.2:g.150950118del	GRCh38
NC_000007.13:g.150647206del , CM000669.1:g.150647206del	GRCh37
NC_000007.12:g.150278139del	NCBI36
NG_008916.1:g.32810del , LRG_288:g.32810del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1747del
ENST00000684241.1:n.3231+51del
ENST00000262186.10:c.2398+51del MANE Select	ENSP00000262186.5:n.2398+51del
ENST00000330883.9:c.1378+51del	ENSP00000328531.4:n.1378+51del
ENST00000262186.9:c.2398+51del	ENSP00000262186.5:n.2398+51del
ENST00000330883.8:c.1378+51del	ENSP00000328531.4:n.1378+51del
ENST00000430723.4:c.2101del	ENSP00000387657.4:p.Arg701GlufsTer6
ENST00000461280.1:n.1736del
ENST00000473610.5:n.2081del
ENST00000532957.5:n.2672del
NM_000238.3:c.2398+51del , LRG_288t1:c.2398+51del	NP_000229.1:n.2398+51del
NM_001204798.1:c.1429del	NP_001191727.1:p.Arg477GlufsTer6
NM_172056.2:c.2449del , LRG_288t2:c.2449del	NP_742053.1:p.Arg817GlufsTer6
NM_172057.2:c.1378+51del , LRG_288t3:c.1378+51del	NP_742054.1:n.1378+51del
XM_011516185.1:c.2098+51del	XP_011514487.1:n.2098+51del
XM_011516186.1:c.2398+51del	XP_011514488.1:n.2398+51del
XM_011516185.2:c.2098+51del	XP_011514487.1:n.2098+51del
XM_011516186.3:c.2398+51del	XP_011514488.1:n.2398+51del
XM_017012195.1:c.2248+51del	XP_016867684.1:n.2248+51del
XM_017012196.1:c.2221+51del	XP_016867685.1:n.2221+51del
NM_000238.4:c.2398+51del MANE Select	NP_000229.1:n.2398+51del
NM_001204798.2:c.1429del	NP_001191727.1:p.Arg477GlufsTer6
NM_172057.3:c.1378+51del	NP_742054.1:n.1378+51del