Canonical Allele Identifier: CA1538266

Gene: MYCN

Linked Data

• dbSNP Id: rs770204326
• ExAC: 2:16085688 C / A
• gnomAD v2: 2-16085688-C-A
• gnomAD v4: 2-15945566-C-A
• MyVariant Identifiers: chr2:g.16085688C>A (hg19) ; chr2:g.15945566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945566C>A , CM000664.2:g.15945566C>A	GRCh38
NC_000002.11:g.16085688C>A , CM000664.1:g.16085688C>A	GRCh37
NC_000002.10:g.16003139C>A	NCBI36
NG_007457.1:g.10006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.213C>A
ENST00000281043.4:c.864C>A MANE Select	ENSP00000281043.3:p.Ser288=
ENST00000638417.1:c.231C>A	ENSP00000491476.1:p.Ser77=
ENST00000281043.3:c.864C>A	ENSP00000281043.3:p.Ser288=
NM_001293228.1:c.864C>A	NP_001280157.1:p.Ser288=
NM_001293231.1:c.231C>A	NP_001280160.1:p.Ser77=
NM_001293233.1:c.*799C>A	NP_001280162.1:n.*799C>A
NM_005378.5:c.864C>A	NP_005369.2:p.Ser288=
NM_005378.6:c.864C>A MANE Select	NP_005369.2:p.Ser288=
NM_001293228.2:c.864C>A	NP_001280157.1:p.Ser288=
NM_001293231.2:c.231C>A	NP_001280160.1:p.Ser77=
NM_001293233.2:c.*799C>A	NP_001280162.1:n.*799C>A