Canonical Allele Identifier: CA2967120565

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950118_150950121del , CM000669.2:g.150950118_150950121del	GRCh38
NC_000007.13:g.150647206_150647209del , CM000669.1:g.150647206_150647209del	GRCh37
NC_000007.12:g.150278139_150278142del	NCBI36
NG_008916.1:g.32806_32809del , LRG_288:g.32806_32809del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1743_1746del
ENST00000684241.1:n.3231+47_3231+50del
ENST00000262186.10:c.2398+47_2398+50del MANE Select	ENSP00000262186.5:n.2398+47_2398+50del
ENST00000330883.9:c.1378+47_1378+50del	ENSP00000328531.4:n.1378+47_1378+50del
ENST00000262186.9:c.2398+47_2398+50del	ENSP00000262186.5:n.2398+47_2398+50del
ENST00000330883.8:c.1378+47_1378+50del	ENSP00000328531.4:n.1378+47_1378+50del
ENST00000430723.4:c.2097_2100del	ENSP00000387657.4:p.Ser700GlufsTer6
ENST00000461280.1:n.1732_1735del
ENST00000473610.5:n.2077_2080del
ENST00000532957.5:n.2668_2671del
NM_000238.3:c.2398+47_2398+50del , LRG_288t1:c.2398+47_2398+50del	NP_000229.1:n.2398+47_2398+50del
NM_001204798.1:c.1425_1428del	NP_001191727.1:p.Ser476GlufsTer6
NM_172056.2:c.2445_2448del , LRG_288t2:c.2445_2448del	NP_742053.1:p.Ser816GlufsTer6
NM_172057.2:c.1378+47_1378+50del , LRG_288t3:c.1378+47_1378+50del	NP_742054.1:n.1378+47_1378+50del
XM_011516185.1:c.2098+47_2098+50del	XP_011514487.1:n.2098+47_2098+50del
XM_011516186.1:c.2398+47_2398+50del	XP_011514488.1:n.2398+47_2398+50del
XM_011516185.2:c.2098+47_2098+50del	XP_011514487.1:n.2098+47_2098+50del
XM_011516186.3:c.2398+47_2398+50del	XP_011514488.1:n.2398+47_2398+50del
XM_017012195.1:c.2248+47_2248+50del	XP_016867684.1:n.2248+47_2248+50del
XM_017012196.1:c.2221+47_2221+50del	XP_016867685.1:n.2221+47_2221+50del
NM_000238.4:c.2398+47_2398+50del MANE Select	NP_000229.1:n.2398+47_2398+50del
NM_001204798.2:c.1425_1428del	NP_001191727.1:p.Ser476GlufsTer6
NM_172057.3:c.1378+47_1378+50del	NP_742054.1:n.1378+47_1378+50del