Canonical Allele Identifier: CA2580063670
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 2296052
ClinVar RCV Id: RCV002850143
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945652_15945653dup , CM000664.2:g.15945652_15945653dup GRCh38
NC_000002.11:g.16085774_16085775dup , CM000664.1:g.16085774_16085775dup GRCh37
NC_000002.10:g.16003225_16003226dup NCBI36
NG_007457.1:g.10092_10093dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.299_300dup
ENST00000281043.4:c.950_951dup MANE Select ENSP00000281043.3:p.Leu318SerfsTer2
ENST00000638417.1:c.317_318dup ENSP00000491476.1:p.Leu107SerfsTer2
ENST00000281043.3:c.950_951dup ENSP00000281043.3:p.Leu318SerfsTer2
NM_001293228.1:c.950_951dup NP_001280157.1:p.Leu318SerfsTer2
NM_001293231.1:c.317_318dup NP_001280160.1:p.Leu107SerfsTer2
NM_001293233.1:c.*885_*886dup NP_001280162.1:n.*885_*886dup
NM_005378.5:c.950_951dup NP_005369.2:p.Leu318SerfsTer2
NM_005378.6:c.950_951dup MANE Select NP_005369.2:p.Leu318SerfsTer2
NM_001293228.2:c.950_951dup NP_001280157.1:p.Leu318SerfsTer2
NM_001293231.2:c.317_318dup NP_001280160.1:p.Leu107SerfsTer2
NM_001293233.2:c.*885_*886dup NP_001280162.1:n.*885_*886dup
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