Canonical Allele Identifier: CA1538248
Gene: MYCN HGNC NCBI

Linked Data

ClinVar Variation Id: 1978553
ClinVar RCV Id: RCV002751041
dbSNP Id: rs745328158
ExAC: 2:16085625 T / TGATGAAGAGGAA
gnomAD v2: 2-16085625-T-TGATGAAGAGGAA
gnomAD v3: 2-15945503-T-TGATGAAGAGGAA
gnomAD v4: 2-15945503-T-TGATGAAGAGGAA
MyVariant Identifiers: chr2:g.16085637_16085638insGATGAAGAGGAA (hg19) chr2:g.16085625_16085626insGATGAAGAGGAA (hg19) chr2:g.15945515_15945516insGATGAAGAGGAA (hg38) chr2:g.15945503_15945504insGATGAAGAGGAA (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945518_15945529dup , CM000664.2:g.15945518_15945529dup GRCh38
NC_000002.11:g.16085640_16085651dup , CM000664.1:g.16085640_16085651dup GRCh37
NC_000002.10:g.16003091_16003102dup NCBI36
NG_007457.1:g.9958_9969dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.165_176dup
ENST00000281043.4:c.816_827dup MANE Select ENSP00000281043.3:p.Glu275_Glu276insAspGluGluGlu
ENST00000638417.1:c.183_194dup ENSP00000491476.1:p.Glu64_Glu65insAspGluGluGlu
ENST00000281043.3:c.816_827dup ENSP00000281043.3:p.Glu275_Glu276insAspGluGluGlu
NM_001293228.1:c.816_827dup NP_001280157.1:p.Glu275_Glu276insAspGluGluGlu
NM_001293231.1:c.183_194dup NP_001280160.1:p.Glu64_Glu65insAspGluGluGlu
NM_001293233.1:c.*751_*762dup NP_001280162.1:n.*751_*762dup
NM_005378.5:c.816_827dup NP_005369.2:p.Glu275_Glu276insAspGluGluGlu
NM_005378.6:c.816_827dup MANE Select NP_005369.2:p.Glu275_Glu276insAspGluGluGlu
NM_001293228.2:c.816_827dup NP_001280157.1:p.Glu275_Glu276insAspGluGluGlu
NM_001293231.2:c.183_194dup NP_001280160.1:p.Glu64_Glu65insAspGluGluGlu
NM_001293233.2:c.*751_*762dup NP_001280162.1:n.*751_*762dup
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