Canonical Allele Identifier: CA2499218805

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1058879
• ClinVar RCV Id: RCV001368062
• dbSNP Id: rs2116960605

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951567_150951572del , CM000669.2:g.150951567_150951572del	GRCh38
NC_000007.13:g.150648655_150648660del , CM000669.1:g.150648655_150648660del	GRCh37
NC_000007.12:g.150279588_150279593del	NCBI36
NG_008916.1:g.31359_31364del , LRG_288:g.31359_31364del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1123_1128del
ENST00000684241.1:n.2658_2663del
ENST00000262186.10:c.1825_1830del MANE Select	ENSP00000262186.5:p.Asp609_Lys610del
ENST00000330883.9:c.805_810del	ENSP00000328531.4:p.Asp269_Lys270del
ENST00000262186.9:c.1825_1830del	ENSP00000262186.5:p.Asp609_Lys610del
ENST00000330883.8:c.805_810del	ENSP00000328531.4:p.Asp269_Lys270del
ENST00000430723.4:c.1477_1482del	ENSP00000387657.4:p.Asp493_Lys494del
ENST00000461280.1:n.1112_1117del
ENST00000473610.5:n.1130_1135del
ENST00000532957.5:n.2048_2053del
NM_000238.3:c.1825_1830del , LRG_288t1:c.1825_1830del	NP_000229.1:p.Asp609_Lys610del
NM_001204798.1:c.805_810del	NP_001191727.1:p.Asp269_Lys270del
NM_172056.2:c.1825_1830del , LRG_288t2:c.1825_1830del	NP_742053.1:p.Asp609_Lys610del
NM_172057.2:c.805_810del , LRG_288t3:c.805_810del	NP_742054.1:p.Asp269_Lys270del
XM_011516185.1:c.1525_1530del	XP_011514487.1:p.Asp509_Lys510del
XM_011516186.1:c.1825_1830del	XP_011514488.1:p.Asp609_Lys610del
XM_011516185.2:c.1525_1530del	XP_011514487.1:p.Asp509_Lys510del
XM_011516186.3:c.1825_1830del	XP_011514488.1:p.Asp609_Lys610del
XM_017012195.1:c.1675_1680del	XP_016867684.1:p.Asp559_Lys560del
XM_017012196.1:c.1648_1653del	XP_016867685.1:p.Asp550_Lys551del
NM_000238.4:c.1825_1830del MANE Select	NP_000229.1:p.Asp609_Lys610del
NM_001204798.2:c.805_810del	NP_001191727.1:p.Asp269_Lys270del
NM_172057.3:c.805_810del	NP_742054.1:p.Asp269_Lys270del