Canonical Allele Identifier: CA2695208719

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951510_150951512del , CM000669.2:g.150951510_150951512del	GRCh38
NC_000007.13:g.150648598_150648600del , CM000669.1:g.150648598_150648600del	GRCh37
NC_000007.12:g.150279531_150279533del	NCBI36
NG_008916.1:g.31416_31418del , LRG_288:g.31416_31418del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1180_1182del
ENST00000683359.1:n.6_8del
ENST00000684241.1:n.2715_2717del
ENST00000262186.10:c.1882_1884del MANE Select	ENSP00000262186.5:p.Gly628del
ENST00000330883.9:c.862_864del	ENSP00000328531.4:p.Gly288del
ENST00000262186.9:c.1882_1884del	ENSP00000262186.5:p.Gly628del
ENST00000330883.8:c.862_864del	ENSP00000328531.4:p.Gly288del
ENST00000430723.4:c.1534_1536del	ENSP00000387657.4:p.Gly512del
ENST00000461280.1:n.1169_1171del
ENST00000473610.5:n.1187_1189del
ENST00000532957.5:n.2105_2107del
NM_000238.3:c.1882_1884del , LRG_288t1:c.1882_1884del	NP_000229.1:p.Gly628del
NM_001204798.1:c.862_864del	NP_001191727.1:p.Gly288del
NM_172056.2:c.1882_1884del , LRG_288t2:c.1882_1884del	NP_742053.1:p.Gly628del
NM_172057.2:c.862_864del , LRG_288t3:c.862_864del	NP_742054.1:p.Gly288del
XM_011516185.1:c.1582_1584del	XP_011514487.1:p.Gly528del
XM_011516186.1:c.1882_1884del	XP_011514488.1:p.Gly628del
XM_011516185.2:c.1582_1584del	XP_011514487.1:p.Gly528del
XM_011516186.3:c.1882_1884del	XP_011514488.1:p.Gly628del
XM_017012195.1:c.1732_1734del	XP_016867684.1:p.Gly578del
XM_017012196.1:c.1705_1707del	XP_016867685.1:p.Gly569del
NM_000238.4:c.1882_1884del MANE Select	NP_000229.1:p.Gly628del
NM_001204798.2:c.862_864del	NP_001191727.1:p.Gly288del
NM_172057.3:c.862_864del	NP_742054.1:p.Gly288del