Canonical Allele Identifier: CA1752410540

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801178875

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951745_150951747del , CM000669.2:g.150951745_150951747del	GRCh38
NC_000007.13:g.150648833_150648835del , CM000669.1:g.150648833_150648835del	GRCh37
NC_000007.12:g.150279766_150279768del	NCBI36
NG_008916.1:g.31182_31184del , LRG_288:g.31182_31184del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.946_948del
ENST00000684116.1:n.541_543del
ENST00000684241.1:n.2481_2483del
ENST00000262186.10:c.1648_1650del MANE Select	ENSP00000262186.5:p.Leu550del
ENST00000330883.9:c.628_630del	ENSP00000328531.4:p.Leu210del
ENST00000262186.9:c.1648_1650del	ENSP00000262186.5:p.Leu550del
ENST00000330883.8:c.628_630del	ENSP00000328531.4:p.Leu210del
ENST00000430723.4:c.1300_1302del	ENSP00000387657.4:p.Leu434del
ENST00000461280.1:n.935_937del
ENST00000473610.5:n.953_955del
ENST00000532957.5:n.1871_1873del
NM_000238.3:c.1648_1650del , LRG_288t1:c.1648_1650del	NP_000229.1:p.Leu550del
NM_001204798.1:c.628_630del	NP_001191727.1:p.Leu210del
NM_172056.2:c.1648_1650del , LRG_288t2:c.1648_1650del	NP_742053.1:p.Leu550del
NM_172057.2:c.628_630del , LRG_288t3:c.628_630del	NP_742054.1:p.Leu210del
XM_011516185.1:c.1348_1350del	XP_011514487.1:p.Leu450del
XM_011516186.1:c.1648_1650del	XP_011514488.1:p.Leu550del
XM_011516185.2:c.1348_1350del	XP_011514487.1:p.Leu450del
XM_011516186.3:c.1648_1650del	XP_011514488.1:p.Leu550del
XM_017012195.1:c.1498_1500del	XP_016867684.1:p.Leu500del
XM_017012196.1:c.1471_1473del	XP_016867685.1:p.Leu491del
NM_000238.4:c.1648_1650del MANE Select	NP_000229.1:p.Leu550del
NM_001204798.2:c.628_630del	NP_001191727.1:p.Leu210del
NM_172057.3:c.628_630del	NP_742054.1:p.Leu210del