Canonical Allele Identifier: CA353925
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 222675
ClinVar RCV Id: RCV000208164
dbSNP Id: rs869025448
MyVariant Identifiers: chr7:g.150649668dupG (hg19) chr7:g.150649667_150649668insG (hg19) chr7:g.150952580dupG (hg38) chr7:g.150952579_150952580insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952581dup , CM000669.2:g.150952581dup GRCh38
NC_000007.13:g.150649669dup , CM000669.1:g.150649669dup GRCh37
NC_000007.12:g.150280602dup NCBI36
NG_008916.1:g.30347dup , LRG_288:g.30347dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.700dup
ENST00000684116.1:n.295dup
ENST00000684241.1:n.2235dup
ENST00000262186.10:c.1402dup MANE Select ENSP00000262186.5:p.Leu468ProfsTer?
ENST00000330883.9:c.382dup ENSP00000328531.4:p.Leu128ProfsTer?
ENST00000262186.9:c.1402dup ENSP00000262186.5:p.Leu468ProfsTer?
ENST00000330883.8:c.382dup ENSP00000328531.4:p.Leu128ProfsTer?
ENST00000430723.4:c.1054dup ENSP00000387657.4:p.Leu352ProfsTer?
ENST00000461280.1:n.689dup
ENST00000473610.5:n.707dup
ENST00000532957.5:n.1625dup
NM_000238.3:c.1402dup , LRG_288t1:c.1402dup NP_000229.1:p.Leu468ProfsTer?
NM_001204798.1:c.382dup NP_001191727.1:p.Leu128ProfsTer?
NM_172056.2:c.1402dup , LRG_288t2:c.1402dup NP_742053.1:p.Leu468ProfsTer?
NM_172057.2:c.382dup , LRG_288t3:c.382dup NP_742054.1:p.Leu128ProfsTer?
XM_011516185.1:c.1102dup XP_011514487.1:p.Leu368ProfsTer?
XM_011516186.1:c.1402dup XP_011514488.1:p.Leu468ProfsTer?
XM_011516185.2:c.1102dup XP_011514487.1:p.Leu368ProfsTer?
XM_011516186.3:c.1402dup XP_011514488.1:p.Leu468ProfsTer?
XM_017012195.1:c.1252dup XP_016867684.1:p.Leu418ProfsTer?
XM_017012196.1:c.1225dup XP_016867685.1:p.Leu409ProfsTer?
NM_000238.4:c.1402dup MANE Select NP_000229.1:p.Leu468ProfsTer?
NM_001204798.2:c.382dup NP_001191727.1:p.Leu128ProfsTer?
NM_172057.3:c.382dup NP_742054.1:p.Leu128ProfsTer?
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