Canonical Allele Identifier: CA2685601782

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150950008-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950012dup , CM000669.2:g.150950012dup	GRCh38
NC_000007.13:g.150647100dup , CM000669.1:g.150647100dup	GRCh37
NC_000007.12:g.150278033dup	NCBI36
NG_008916.1:g.32918dup , LRG_288:g.32918dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1855dup
ENST00000684241.1:n.3231+159dup
ENST00000262186.10:c.2398+159dup MANE Select	ENSP00000262186.5:n.2398+159dup
ENST00000330883.9:c.1378+159dup	ENSP00000328531.4:n.1378+159dup
ENST00000262186.9:c.2398+159dup	ENSP00000262186.5:n.2398+159dup
ENST00000330883.8:c.1378+159dup	ENSP00000328531.4:n.1378+159dup
ENST00000430723.4:c.2209dup	ENSP00000387657.4:p.Ala737GlyfsTer10
ENST00000461280.1:n.1844dup
ENST00000473610.5:n.2189dup
ENST00000532957.5:n.2780dup
NM_000238.3:c.2398+159dup , LRG_288t1:c.2398+159dup	NP_000229.1:n.2398+159dup
NM_001204798.1:c.1537dup	NP_001191727.1:p.Ala513GlyfsTer10
NM_172056.2:c.2557dup , LRG_288t2:c.2557dup	NP_742053.1:p.Ala853GlyfsTer10
NM_172057.2:c.1378+159dup , LRG_288t3:c.1378+159dup	NP_742054.1:n.1378+159dup
XM_011516185.1:c.2098+159dup	XP_011514487.1:n.2098+159dup
XM_011516186.1:c.2398+159dup	XP_011514488.1:n.2398+159dup
XM_011516185.2:c.2098+159dup	XP_011514487.1:n.2098+159dup
XM_011516186.3:c.2398+159dup	XP_011514488.1:n.2398+159dup
XM_017012195.1:c.2248+159dup	XP_016867684.1:n.2248+159dup
XM_017012196.1:c.2221+159dup	XP_016867685.1:n.2221+159dup
NM_000238.4:c.2398+159dup MANE Select	NP_000229.1:n.2398+159dup
NM_001204798.2:c.1537dup	NP_001191727.1:p.Ala513GlyfsTer10
NM_172057.3:c.1378+159dup	NP_742054.1:n.1378+159dup