Canonical Allele Identifier: CA2573051678
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 1331605
ClinVar RCV Id: RCV001806949
dbSNP Id: rs2103330798
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945665dup , CM000664.2:g.15945665dup GRCh38
NC_000002.11:g.16085787dup , CM000664.1:g.16085787dup GRCh37
NC_000002.10:g.16003238dup NCBI36
NG_007457.1:g.10105dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.312dup
ENST00000281043.4:c.963dup MANE Select ENSP00000281043.3:p.Arg322ThrfsTer21
ENST00000638417.1:c.330dup ENSP00000491476.1:p.Arg111ThrfsTer21
ENST00000281043.3:c.963dup ENSP00000281043.3:p.Arg322ThrfsTer21
NM_001293228.1:c.963dup NP_001280157.1:p.Arg322ThrfsTer21
NM_001293231.1:c.330dup NP_001280160.1:p.Arg111ThrfsTer21
NM_001293233.1:c.*898dup NP_001280162.1:n.*898dup
NM_005378.5:c.963dup NP_005369.2:p.Arg322ThrfsTer21
NM_005378.6:c.963dup MANE Select NP_005369.2:p.Arg322ThrfsTer21
NM_001293228.2:c.963dup NP_001280157.1:p.Arg322ThrfsTer21
NM_001293231.2:c.330dup NP_001280160.1:p.Arg111ThrfsTer21
NM_001293233.2:c.*898dup NP_001280162.1:n.*898dup
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