Canonical Allele Identifier: CA305306
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200630
ClinVar RCV Id: RCV001842846
dbSNP Id: rs794728434
MyVariant Identifiers: chr7:g.150649866_150649869dupGCAG (hg19) chr7:g.150649865_150649866insGCAG (hg19) chr7:g.150952778_150952781dupGCAG (hg38) chr7:g.150952777_150952778insGCAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952779_150952782dup , CM000669.2:g.150952779_150952782dup GRCh38
NC_000007.13:g.150649867_150649870dup , CM000669.1:g.150649867_150649870dup GRCh37
NC_000007.12:g.150280800_150280803dup NCBI36
NG_008916.1:g.30146_30149dup , LRG_288:g.30146_30149dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.499_502dup
ENST00000684116.1:n.94_97dup
ENST00000684241.1:n.2034_2037dup
ENST00000262186.10:c.1201_1204dup MANE Select ENSP00000262186.5:p.His402ProfsTer?
ENST00000330883.9:c.181_184dup ENSP00000328531.4:p.His62ProfsTer?
ENST00000262186.9:c.1201_1204dup ENSP00000262186.5:p.His402ProfsTer?
ENST00000330883.8:c.181_184dup ENSP00000328531.4:p.His62ProfsTer?
ENST00000430723.4:c.853_856dup ENSP00000387657.4:p.His286ProfsTer?
ENST00000461280.1:n.488_491dup
ENST00000473610.5:n.506_509dup
ENST00000532957.5:n.1424_1427dup
NM_000238.3:c.1201_1204dup , LRG_288t1:c.1201_1204dup NP_000229.1:p.His402ProfsTer?
NM_001204798.1:c.181_184dup NP_001191727.1:p.His62ProfsTer?
NM_172056.2:c.1201_1204dup , LRG_288t2:c.1201_1204dup NP_742053.1:p.His402ProfsTer?
NM_172057.2:c.181_184dup , LRG_288t3:c.181_184dup NP_742054.1:p.His62ProfsTer?
XM_011516185.1:c.901_904dup XP_011514487.1:p.His302ProfsTer?
XM_011516186.1:c.1201_1204dup XP_011514488.1:p.His402ProfsTer?
XM_011516185.2:c.901_904dup XP_011514487.1:p.His302ProfsTer?
XM_011516186.3:c.1201_1204dup XP_011514488.1:p.His402ProfsTer?
XM_017012195.1:c.1051_1054dup XP_016867684.1:p.His352ProfsTer?
XM_017012196.1:c.1024_1027dup XP_016867685.1:p.His343ProfsTer?
NM_000238.4:c.1201_1204dup MANE Select NP_000229.1:p.His402ProfsTer?
NM_001204798.2:c.181_184dup NP_001191727.1:p.His62ProfsTer?
NM_172057.3:c.181_184dup NP_742054.1:p.His62ProfsTer?
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