Canonical Allele Identifier: CA071616

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950116del , CM000669.2:g.150950116del	GRCh38
NC_000007.13:g.150647204del , CM000669.1:g.150647204del	GRCh37
NC_000007.12:g.150278137del	NCBI36
NG_008916.1:g.32811del , LRG_288:g.32811del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1748del
ENST00000684241.1:n.3231+52del
ENST00000262186.10:c.2398+52del MANE Select	ENSP00000262186.5:n.2398+52del
ENST00000330883.9:c.1378+52del	ENSP00000328531.4:n.1378+52del
ENST00000262186.9:c.2398+52del	ENSP00000262186.5:n.2398+52del
ENST00000330883.8:c.1378+52del	ENSP00000328531.4:n.1378+52del
ENST00000430723.4:c.2102del	ENSP00000387657.4:p.Arg701LysfsTer6
ENST00000461280.1:n.1737del
ENST00000473610.5:n.2082del
ENST00000532957.5:n.2673del
NM_000238.3:c.2398+52del , LRG_288t1:c.2398+52del	NP_000229.1:n.2398+52del
NM_001204798.1:c.1430del	NP_001191727.1:p.Arg477LysfsTer6
NM_172056.2:c.2450del , LRG_288t2:c.2450del	NP_742053.1:p.Arg817LysfsTer6
NM_172057.2:c.1378+52del , LRG_288t3:c.1378+52del	NP_742054.1:n.1378+52del
XM_011516185.1:c.2098+52del	XP_011514487.1:n.2098+52del
XM_011516186.1:c.2398+52del	XP_011514488.1:n.2398+52del
XM_011516185.2:c.2098+52del	XP_011514487.1:n.2098+52del
XM_011516186.3:c.2398+52del	XP_011514488.1:n.2398+52del
XM_017012195.1:c.2248+52del	XP_016867684.1:n.2248+52del
XM_017012196.1:c.2221+52del	XP_016867685.1:n.2221+52del
NM_000238.4:c.2398+52del MANE Select	NP_000229.1:n.2398+52del
NM_001204798.2:c.1430del	NP_001191727.1:p.Arg477LysfsTer6
NM_172057.3:c.1378+52del	NP_742054.1:n.1378+52del