Canonical Allele Identifier: CA2695208720

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951512_150951522dup , CM000669.2:g.150951512_150951522dup	GRCh38
NC_000007.13:g.150648600_150648610dup , CM000669.1:g.150648600_150648610dup	GRCh37
NC_000007.12:g.150279533_150279543dup	NCBI36
NG_008916.1:g.31406_31416dup , LRG_288:g.31406_31416dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1170_1180dup
ENST00000684241.1:n.2705_2715dup
ENST00000262186.10:c.1872_1882dup MANE Select	ENSP00000262186.5:p.Gly628ValfsTer?
ENST00000330883.9:c.852_862dup	ENSP00000328531.4:p.Gly288ValfsTer?
ENST00000262186.9:c.1872_1882dup	ENSP00000262186.5:p.Gly628ValfsTer?
ENST00000330883.8:c.852_862dup	ENSP00000328531.4:p.Gly288ValfsTer?
ENST00000430723.4:c.1524_1534dup	ENSP00000387657.4:p.Gly512ValfsTer?
ENST00000461280.1:n.1159_1169dup
ENST00000473610.5:n.1177_1187dup
ENST00000532957.5:n.2095_2105dup
NM_000238.3:c.1872_1882dup , LRG_288t1:c.1872_1882dup	NP_000229.1:p.Gly628ValfsTer?
NM_001204798.1:c.852_862dup	NP_001191727.1:p.Gly288ValfsTer?
NM_172056.2:c.1872_1882dup , LRG_288t2:c.1872_1882dup	NP_742053.1:p.Gly628ValfsTer?
NM_172057.2:c.852_862dup , LRG_288t3:c.852_862dup	NP_742054.1:p.Gly288ValfsTer?
XM_011516185.1:c.1572_1582dup	XP_011514487.1:p.Gly528ValfsTer?
XM_011516186.1:c.1872_1882dup	XP_011514488.1:p.Gly628ValfsTer?
XM_011516185.2:c.1572_1582dup	XP_011514487.1:p.Gly528ValfsTer?
XM_011516186.3:c.1872_1882dup	XP_011514488.1:p.Gly628ValfsTer?
XM_017012195.1:c.1722_1732dup	XP_016867684.1:p.Gly578ValfsTer?
XM_017012196.1:c.1695_1705dup	XP_016867685.1:p.Gly569ValfsTer?
NM_000238.4:c.1872_1882dup MANE Select	NP_000229.1:p.Gly628ValfsTer?
NM_001204798.2:c.852_862dup	NP_001191727.1:p.Gly288ValfsTer?
NM_172057.3:c.852_862dup	NP_742054.1:p.Gly288ValfsTer?