Canonical Allele Identifier: CA2499218792

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1072580
• ClinVar RCV Id: RCV001385331
• dbSNP Id: rs2116937619

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948456_150948460dup , CM000669.2:g.150948456_150948460dup	GRCh38
NC_000007.13:g.150645544_150645548dup , CM000669.1:g.150645544_150645548dup	GRCh37
NC_000007.12:g.150276477_150276481dup	NCBI36
NG_008916.1:g.34467_34471dup , LRG_288:g.34467_34471dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3509_3513dup
ENST00000262186.10:c.2676_2680dup MANE Select	ENSP00000262186.5:p.Arg894ProfsTer?
ENST00000330883.9:c.1656_1660dup	ENSP00000328531.4:p.Arg554ProfsTer?
ENST00000262186.9:c.2676_2680dup	ENSP00000262186.5:p.Arg894ProfsTer?
ENST00000330883.8:c.1656_1660dup	ENSP00000328531.4:p.Arg554ProfsTer?
NM_000238.3:c.2676_2680dup , LRG_288t1:c.2676_2680dup	NP_000229.1:p.Arg894ProfsTer?
NM_172057.2:c.1656_1660dup , LRG_288t3:c.1656_1660dup	NP_742054.1:p.Arg554ProfsTer?
XM_011516185.1:c.2376_2380dup	XP_011514487.1:p.Arg794ProfsTer?
XM_011516186.1:c.2676_2680dup	XP_011514488.1:p.Arg894ProfsTer?
XM_011516185.2:c.2376_2380dup	XP_011514487.1:p.Arg794ProfsTer?
XM_011516186.3:c.2676_2680dup	XP_011514488.1:p.Arg894ProfsTer?
XM_017012195.1:c.2526_2530dup	XP_016867684.1:p.Arg844ProfsTer?
XM_017012196.1:c.2499_2503dup	XP_016867685.1:p.Arg835ProfsTer?
NM_000238.4:c.2676_2680dup MANE Select	NP_000229.1:p.Arg894ProfsTer?
NM_172057.3:c.1656_1660dup	NP_742054.1:p.Arg554ProfsTer?