Canonical Allele Identifier: CA759588260

Gene: MYCN

Linked Data

• dbSNP Id: rs1295651371
• gnomAD v3: 2-15945547-T-TGGAGAA
• gnomAD v4: 2-15945547-T-TGGAGAA
• MyVariant Identifiers: chr2:g.16085669_16085670insGGAGAA (hg19) ; chr2:g.15945547_15945548insGGAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945549_15945554dup , CM000664.2:g.15945549_15945554dup	GRCh38
NC_000002.11:g.16085671_16085676dup , CM000664.1:g.16085671_16085676dup	GRCh37
NC_000002.10:g.16003122_16003127dup	NCBI36
NG_007457.1:g.9989_9994dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.196_201dup
ENST00000281043.4:c.847_852dup MANE Select	ENSP00000281043.3:p.Lys284_Arg285insGluLys
ENST00000638417.1:c.214_219dup	ENSP00000491476.1:p.Lys73_Arg74insGluLys
ENST00000281043.3:c.847_852dup	ENSP00000281043.3:p.Lys284_Arg285insGluLys
NM_001293228.1:c.847_852dup	NP_001280157.1:p.Lys284_Arg285insGluLys
NM_001293231.1:c.214_219dup	NP_001280160.1:p.Lys73_Arg74insGluLys
NM_001293233.1:c.*782_*787dup	NP_001280162.1:n.*782_*787dup
NM_005378.5:c.847_852dup	NP_005369.2:p.Lys284_Arg285insGluLys
NM_005378.6:c.847_852dup MANE Select	NP_005369.2:p.Lys284_Arg285insGluLys
NM_001293228.2:c.847_852dup	NP_001280157.1:p.Lys284_Arg285insGluLys
NM_001293231.2:c.214_219dup	NP_001280160.1:p.Lys73_Arg74insGluLys
NM_001293233.2:c.*782_*787dup	NP_001280162.1:n.*782_*787dup