Canonical Allele Identifier: CA2697557667

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2748964
• ClinVar RCV Id: RCV003531749

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948484_150948488dup , CM000669.2:g.150948484_150948488dup	GRCh38
NC_000007.13:g.150645572_150645576dup , CM000669.1:g.150645572_150645576dup	GRCh37
NC_000007.12:g.150276505_150276509dup	NCBI36
NG_008916.1:g.34439_34443dup , LRG_288:g.34439_34443dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3481_3485dup
ENST00000262186.10:c.2648_2652dup MANE Select	ENSP00000262186.5:p.Arg885GlyfsTer?
ENST00000330883.9:c.1628_1632dup	ENSP00000328531.4:p.Arg545GlyfsTer?
ENST00000262186.9:c.2648_2652dup	ENSP00000262186.5:p.Arg885GlyfsTer?
ENST00000330883.8:c.1628_1632dup	ENSP00000328531.4:p.Arg545GlyfsTer?
NM_000238.3:c.2648_2652dup , LRG_288t1:c.2648_2652dup	NP_000229.1:p.Arg885GlyfsTer?
NM_172057.2:c.1628_1632dup , LRG_288t3:c.1628_1632dup	NP_742054.1:p.Arg545GlyfsTer?
XM_011516185.1:c.2348_2352dup	XP_011514487.1:p.Arg785GlyfsTer?
XM_011516186.1:c.2648_2652dup	XP_011514488.1:p.Arg885GlyfsTer?
XM_011516185.2:c.2348_2352dup	XP_011514487.1:p.Arg785GlyfsTer?
XM_011516186.3:c.2648_2652dup	XP_011514488.1:p.Arg885GlyfsTer?
XM_017012195.1:c.2498_2502dup	XP_016867684.1:p.Arg835GlyfsTer?
XM_017012196.1:c.2471_2475dup	XP_016867685.1:p.Arg826GlyfsTer?
NM_000238.4:c.2648_2652dup MANE Select	NP_000229.1:p.Arg885GlyfsTer?
NM_172057.3:c.1628_1632dup	NP_742054.1:p.Arg545GlyfsTer?