Canonical Allele Identifier: CA305302
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200612
ClinVar RCV Id: RCV000232953
dbSNP Id: rs794728425
MyVariant Identifiers: chr7:g.150655309_150655328dup20 (hg19) chr7:g.150655308_150655309insGGGGCGATGGGAGCTGGCCG (hg19) chr7:g.150958221_150958240dup20 (hg38) chr7:g.150958220_150958221insGGGGCGATGGGAGCTGGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150958223_150958242dup , CM000669.2:g.150958223_150958242dup GRCh38
NC_000007.13:g.150655311_150655330dup , CM000669.1:g.150655311_150655330dup GRCh37
NC_000007.12:g.150286244_150286263dup NCBI36
NG_008916.1:g.24687_24706dup , LRG_288:g.24687_24706dup

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.1568_1587dup
ENST00000262186.10:c.735_754dup MANE Select ENSP00000262186.5:p.Arg252ProfsTer?
ENST00000262186.9:c.735_754dup ENSP00000262186.5:p.Arg252ProfsTer?
ENST00000430723.4:c.387_406dup ENSP00000387657.4:p.Arg136ProfsTer?
ENST00000532957.5:n.958_977dup
NM_000238.3:c.735_754dup , LRG_288t1:c.735_754dup NP_000229.1:p.Arg252ProfsTer?
NM_172056.2:c.735_754dup , LRG_288t2:c.735_754dup NP_742053.1:p.Arg252ProfsTer?
XM_011516185.1:c.435_454dup XP_011514487.1:p.Arg152ProfsTer?
XM_011516186.1:c.735_754dup XP_011514488.1:p.Arg252ProfsTer?
XM_011516185.2:c.435_454dup XP_011514487.1:p.Arg152ProfsTer?
XM_011516186.3:c.735_754dup XP_011514488.1:p.Arg252ProfsTer?
XM_017012195.1:c.585_604dup XP_016867684.1:p.Arg202ProfsTer?
XM_017012196.1:c.558_577dup XP_016867685.1:p.Arg193ProfsTer?
NM_000238.4:c.735_754dup MANE Select NP_000229.1:p.Arg252ProfsTer?
Search 100 bp 5'
Search 100 bp 3'