Canonical Allele Identifier: CA1538288

Gene: MYCN

Linked Data

• dbSNP Id: rs759103701
• ExAC: 2:16085788 C / G
• gnomAD v2: 2-16085788-C-G
• gnomAD v4: 2-15945666-C-G
• MyVariant Identifiers: chr2:g.16085788C>G (hg19) ; chr2:g.15945666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945666C>G , CM000664.2:g.15945666C>G	GRCh38
NC_000002.11:g.16085788C>G , CM000664.1:g.16085788C>G	GRCh37
NC_000002.10:g.16003239C>G	NCBI36
NG_007457.1:g.10106C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.313C>G
ENST00000281043.4:c.964C>G MANE Select	ENSP00000281043.3:p.Arg322Gly
ENST00000638417.1:c.331C>G	ENSP00000491476.1:p.Arg111Gly
ENST00000281043.3:c.964C>G	ENSP00000281043.3:p.Arg322Gly
NM_001293228.1:c.964C>G	NP_001280157.1:p.Arg322Gly
NM_001293231.1:c.331C>G	NP_001280160.1:p.Arg111Gly
NM_001293233.1:c.*899C>G	NP_001280162.1:n.*899C>G
NM_005378.5:c.964C>G	NP_005369.2:p.Arg322Gly
NM_005378.6:c.964C>G MANE Select	NP_005369.2:p.Arg322Gly
NM_001293228.2:c.964C>G	NP_001280157.1:p.Arg322Gly
NM_001293231.2:c.331C>G	NP_001280160.1:p.Arg111Gly
NM_001293233.2:c.*899C>G	NP_001280162.1:n.*899C>G