Canonical Allele Identifier: CA916080375

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 858246
• ClinVar RCV Id: RCV001064080
• dbSNP Id: rs1801406108

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957306_150957307dup , CM000669.2:g.150957306_150957307dup	GRCh38
NC_000007.13:g.150654394_150654395dup , CM000669.1:g.150654394_150654395dup	GRCh37
NC_000007.12:g.150285327_150285328dup	NCBI36
NG_008916.1:g.25620_25621dup , LRG_288:g.25620_25621dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1945_1946dup
ENST00000262186.10:c.1112_1113dup MANE Select	ENSP00000262186.5:p.Glu372LeufsTer?
ENST00000262186.9:c.1112_1113dup	ENSP00000262186.5:p.Glu372LeufsTer?
ENST00000430723.4:c.764_765dup	ENSP00000387657.4:p.Glu256LeufsTer?
ENST00000532957.5:n.1335_1336dup
NM_000238.3:c.1112_1113dup , LRG_288t1:c.1112_1113dup	NP_000229.1:p.Glu372LeufsTer?
NM_172056.2:c.1112_1113dup , LRG_288t2:c.1112_1113dup	NP_742053.1:p.Glu372LeufsTer?
XM_011516185.1:c.812_813dup	XP_011514487.1:p.Glu272LeufsTer?
XM_011516186.1:c.1112_1113dup	XP_011514488.1:p.Glu372LeufsTer?
XM_011516185.2:c.812_813dup	XP_011514487.1:p.Glu272LeufsTer?
XM_011516186.3:c.1112_1113dup	XP_011514488.1:p.Glu372LeufsTer?
XM_017012195.1:c.962_963dup	XP_016867684.1:p.Glu322LeufsTer?
XM_017012196.1:c.935_936dup	XP_016867685.1:p.Glu313LeufsTer?
NM_000238.4:c.1112_1113dup MANE Select	NP_000229.1:p.Glu372LeufsTer?