Canonical Allele Identifier: CA1538284

Gene: MYCN

Linked Data

• dbSNP Id: rs559259288
• ExAC: 2:16085772 C / A
• gnomAD v2: 2-16085772-C-A
• gnomAD v4: 2-15945650-C-A
• MyVariant Identifiers: chr2:g.16085772C>A (hg19) ; chr2:g.15945650C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945650C>A , CM000664.2:g.15945650C>A	GRCh38
NC_000002.11:g.16085772C>A , CM000664.1:g.16085772C>A	GRCh37
NC_000002.10:g.16003223C>A	NCBI36
NG_007457.1:g.10090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.297C>A
ENST00000281043.4:c.948C>A MANE Select	ENSP00000281043.3:p.Ser316Arg
ENST00000638417.1:c.315C>A	ENSP00000491476.1:p.Ser105Arg
ENST00000281043.3:c.948C>A	ENSP00000281043.3:p.Ser316Arg
NM_001293228.1:c.948C>A	NP_001280157.1:p.Ser316Arg
NM_001293231.1:c.315C>A	NP_001280160.1:p.Ser105Arg
NM_001293233.1:c.*883C>A	NP_001280162.1:n.*883C>A
NM_005378.5:c.948C>A	NP_005369.2:p.Ser316Arg
NM_005378.6:c.948C>A MANE Select	NP_005369.2:p.Ser316Arg
NM_001293228.2:c.948C>A	NP_001280157.1:p.Ser316Arg
NM_001293231.2:c.315C>A	NP_001280160.1:p.Ser105Arg
NM_001293233.2:c.*883C>A	NP_001280162.1:n.*883C>A