Canonical Allele Identifier: CA345931616

Gene: MYCN

Linked Data

• dbSNP Id: rs1558535862
• gnomAD v2: 2-16085619-T-A
• gnomAD v4: 2-15945497-T-A
• MyVariant Identifiers: chr2:g.16085619T>A (hg19) ; chr2:g.16085619_16085622delinsAGAA (hg19) ; chr2:g.15945497T>A (hg38) ; chr2:g.15945497_15945500delinsAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945497T>A , CM000664.2:g.15945497T>A	GRCh38
NC_000002.11:g.16085619T>A , CM000664.1:g.16085619T>A	GRCh37
NC_000002.10:g.16003070T>A	NCBI36
NG_007457.1:g.9937T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.144T>A
ENST00000281043.4:c.795T>A MANE Select	ENSP00000281043.3:p.Asp265Glu
ENST00000638417.1:c.162T>A	ENSP00000491476.1:p.Asp54Glu
ENST00000281043.3:c.795T>A	ENSP00000281043.3:p.Asp265Glu
NM_001293228.1:c.795T>A	NP_001280157.1:p.Asp265Glu
NM_001293231.1:c.162T>A	NP_001280160.1:p.Asp54Glu
NM_001293233.1:c.*730T>A	NP_001280162.1:n.*730T>A
NM_005378.5:c.795T>A	NP_005369.2:p.Asp265Glu
NM_005378.6:c.795T>A MANE Select	NP_005369.2:p.Asp265Glu
NM_001293228.2:c.795T>A	NP_001280157.1:p.Asp265Glu
NM_001293231.2:c.162T>A	NP_001280160.1:p.Asp54Glu
NM_001293233.2:c.*730T>A	NP_001280162.1:n.*730T>A