Canonical Allele Identifier: CA2573141848

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1422891
• ClinVar RCV Id: RCV001926318
• dbSNP Id: rs2116929916

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947441del , CM000669.2:g.150947441del	GRCh38
NC_000007.13:g.150644529del , CM000669.1:g.150644529del	GRCh37
NC_000007.12:g.150275462del	NCBI36
NG_008916.1:g.35486del , LRG_288:g.35486del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3872del
ENST00000262186.10:c.3039del MANE Select	ENSP00000262186.5:p.Arg1014AspfsTer?
ENST00000330883.9:c.2019del	ENSP00000328531.4:p.Arg674AspfsTer?
ENST00000262186.9:c.3039del	ENSP00000262186.5:p.Arg1014AspfsTer?
ENST00000330883.8:c.2019del	ENSP00000328531.4:p.Arg674AspfsTer?
NM_000238.3:c.3039del , LRG_288t1:c.3039del	NP_000229.1:p.Arg1014AspfsTer?
NM_172057.2:c.2019del , LRG_288t3:c.2019del	NP_742054.1:p.Arg674AspfsTer?
XM_011516185.1:c.2739del	XP_011514487.1:p.Arg914AspfsTer?
XM_011516186.1:c.*119del	XP_011514488.1:n.*119del
XM_011516185.2:c.2739del	XP_011514487.1:p.Arg914AspfsTer?
XM_011516186.3:c.*119del	XP_011514488.1:n.*119del
XM_017012195.1:c.2889del	XP_016867684.1:p.Arg964AspfsTer?
XM_017012196.1:c.2862del	XP_016867685.1:p.Arg955AspfsTer?
NM_000238.4:c.3039del MANE Select	NP_000229.1:p.Arg1014AspfsTer?
NM_172057.3:c.2019del	NP_742054.1:p.Arg674AspfsTer?