Canonical Allele Identifier: CA2573141867

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1510910
• ClinVar RCV Id: RCV002014218
• dbSNP Id: rs2116962228
• gnomAD v4: 7-150951663-GGCTGCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951664_150951669del , CM000669.2:g.150951664_150951669del	GRCh38
NC_000007.13:g.150648752_150648757del , CM000669.1:g.150648752_150648757del	GRCh37
NC_000007.12:g.150279685_150279690del	NCBI36
NG_008916.1:g.31258_31263del , LRG_288:g.31258_31263del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1022_1027del
ENST00000684241.1:n.2557_2562del
ENST00000262186.10:c.1724_1729del MANE Select	ENSP00000262186.5:p.Glu575_Pro577delinsAla
ENST00000330883.9:c.704_709del	ENSP00000328531.4:p.Glu235_Pro237delinsAla
ENST00000262186.9:c.1724_1729del	ENSP00000262186.5:p.Glu575_Pro577delinsAla
ENST00000330883.8:c.704_709del	ENSP00000328531.4:p.Glu235_Pro237delinsAla
ENST00000430723.4:c.1376_1381del	ENSP00000387657.4:p.Glu459_Pro461delinsAla
ENST00000461280.1:n.1011_1016del
ENST00000473610.5:n.1029_1034del
ENST00000532957.5:n.1947_1952del
NM_000238.3:c.1724_1729del , LRG_288t1:c.1724_1729del	NP_000229.1:p.Glu575_Pro577delinsAla
NM_001204798.1:c.704_709del	NP_001191727.1:p.Glu235_Pro237delinsAla
NM_172056.2:c.1724_1729del , LRG_288t2:c.1724_1729del	NP_742053.1:p.Glu575_Pro577delinsAla
NM_172057.2:c.704_709del , LRG_288t3:c.704_709del	NP_742054.1:p.Glu235_Pro237delinsAla
XM_011516185.1:c.1424_1429del	XP_011514487.1:p.Glu475_Pro477delinsAla
XM_011516186.1:c.1724_1729del	XP_011514488.1:p.Glu575_Pro577delinsAla
XM_011516185.2:c.1424_1429del	XP_011514487.1:p.Glu475_Pro477delinsAla
XM_011516186.3:c.1724_1729del	XP_011514488.1:p.Glu575_Pro577delinsAla
XM_017012195.1:c.1574_1579del	XP_016867684.1:p.Glu525_Pro527delinsAla
XM_017012196.1:c.1547_1552del	XP_016867685.1:p.Glu516_Pro518delinsAla
NM_000238.4:c.1724_1729del MANE Select	NP_000229.1:p.Glu575_Pro577delinsAla
NM_001204798.2:c.704_709del	NP_001191727.1:p.Glu235_Pro237delinsAla
NM_172057.3:c.704_709del	NP_742054.1:p.Glu235_Pro237delinsAla