Canonical Allele Identifier: CA1538249

Gene: MYCN

Linked Data

• dbSNP Id: rs771601541
• ExAC: 2:16085628 T / TGAAGAG
• gnomAD v2: 2-16085628-T-TGAAGAG
• gnomAD v3: 2-15945506-T-TGAAGAG
• gnomAD v4: 2-15945506-T-TGAAGAG
• MyVariant Identifiers: chr2:g.16085628_16085629insGAAGAG (hg19) ; chr2:g.15945506_15945507insGAAGAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945512_15945517dup , CM000664.2:g.15945512_15945517dup	GRCh38
NC_000002.11:g.16085634_16085639dup , CM000664.1:g.16085634_16085639dup	GRCh37
NC_000002.10:g.16003085_16003090dup	NCBI36
NG_007457.1:g.9952_9957dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.159_164dup
ENST00000281043.4:c.810_815dup MANE Select	ENSP00000281043.3:p.Glu271_Asp272insGluGlu
ENST00000638417.1:c.177_182dup	ENSP00000491476.1:p.Glu60_Asp61insGluGlu
ENST00000281043.3:c.810_815dup	ENSP00000281043.3:p.Glu271_Asp272insGluGlu
NM_001293228.1:c.810_815dup	NP_001280157.1:p.Glu271_Asp272insGluGlu
NM_001293231.1:c.177_182dup	NP_001280160.1:p.Glu60_Asp61insGluGlu
NM_001293233.1:c.*745_*750dup	NP_001280162.1:n.*745_*750dup
NM_005378.5:c.810_815dup	NP_005369.2:p.Glu271_Asp272insGluGlu
NM_005378.6:c.810_815dup MANE Select	NP_005369.2:p.Glu271_Asp272insGluGlu
NM_001293228.2:c.810_815dup	NP_001280157.1:p.Glu271_Asp272insGluGlu
NM_001293231.2:c.177_182dup	NP_001280160.1:p.Glu60_Asp61insGluGlu
NM_001293233.2:c.*745_*750dup	NP_001280162.1:n.*745_*750dup