Canonical Allele Identifier: CA1139656755
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 986109
ClinVar RCV Id: RCV001267354
dbSNP Id: rs1662848905
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945739dup , CM000664.2:g.15945739dup GRCh38
NC_000002.11:g.16085861dup , CM000664.1:g.16085861dup GRCh37
NC_000002.10:g.16003312dup NCBI36
NG_007457.1:g.10179dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.386dup
ENST00000281043.4:c.1037dup MANE Select ENSP00000281043.3:p.Gln347ThrfsTer22
ENST00000638417.1:c.404dup ENSP00000491476.1:p.Gln136ThrfsTer22
ENST00000281043.3:c.1037dup ENSP00000281043.3:p.Gln347ThrfsTer22
NM_001293228.1:c.1037dup NP_001280157.1:p.Gln347ThrfsTer22
NM_001293231.1:c.404dup NP_001280160.1:p.Gln136ThrfsTer22
NM_001293233.1:c.*972dup NP_001280162.1:n.*972dup
NM_005378.5:c.1037dup NP_005369.2:p.Gln347ThrfsTer22
NM_005378.6:c.1037dup MANE Select NP_005369.2:p.Gln347ThrfsTer22
NM_001293228.2:c.1037dup NP_001280157.1:p.Gln347ThrfsTer22
NM_001293231.2:c.404dup NP_001280160.1:p.Gln136ThrfsTer22
NM_001293233.2:c.*972dup NP_001280162.1:n.*972dup
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