Canonical Allele Identifier: CA658761343

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1458716
• ClinVar RCV Id: RCV001975050 ; RCV002331533
• dbSNP Id: rs2117011733

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959625dup , CM000669.2:g.150959625dup	GRCh38
NC_000007.13:g.150656713dup , CM000669.1:g.150656713dup	GRCh37
NC_000007.12:g.150287646dup	NCBI36
NG_008916.1:g.23305dup , LRG_288:g.23305dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1255dup
ENST00000262186.10:c.422dup MANE Select	ENSP00000262186.5:p.Ala142GlyfsTer3
ENST00000262186.9:c.422dup	ENSP00000262186.5:p.Ala142GlyfsTer3
ENST00000430723.4:c.234+11dup	ENSP00000387657.4:n.234+11dup
ENST00000532957.5:n.645dup
NM_000238.3:c.422dup , LRG_288t1:c.422dup	NP_000229.1:p.Ala142GlyfsTer3
NM_172056.2:c.422dup , LRG_288t2:c.422dup	NP_742053.1:p.Ala142GlyfsTer3
XM_011516185.1:c.122dup	XP_011514487.1:p.Ala42GlyfsTer3
XM_011516186.1:c.422dup	XP_011514488.1:p.Ala142GlyfsTer3
XM_011516185.2:c.122dup	XP_011514487.1:p.Ala42GlyfsTer3
XM_011516186.3:c.422dup	XP_011514488.1:p.Ala142GlyfsTer3
XM_017012195.1:c.272dup	XP_016867684.1:p.Ala92GlyfsTer3
XM_017012196.1:c.245dup	XP_016867685.1:p.Ala83GlyfsTer3
NM_000238.4:c.422dup MANE Select	NP_000229.1:p.Ala142GlyfsTer3