Canonical Allele Identifier: CA345931767

Gene: MYCN

Linked Data

• COSMIC: COSM4649965
• MyVariant Identifiers: chr2:g.16085684C>T (hg19) ; chr2:g.15945562C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945562C>T , CM000664.2:g.15945562C>T	GRCh38
NC_000002.11:g.16085684C>T , CM000664.1:g.16085684C>T	GRCh37
NC_000002.10:g.16003135C>T	NCBI36
NG_007457.1:g.10002C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.209C>T
ENST00000281043.4:c.860C>T MANE Select	ENSP00000281043.3:p.Ser287Phe
ENST00000638417.1:c.227C>T	ENSP00000491476.1:p.Ser76Phe
ENST00000281043.3:c.860C>T	ENSP00000281043.3:p.Ser287Phe
NM_001293228.1:c.860C>T	NP_001280157.1:p.Ser287Phe
NM_001293231.1:c.227C>T	NP_001280160.1:p.Ser76Phe
NM_001293233.1:c.*795C>T	NP_001280162.1:n.*795C>T
NM_005378.5:c.860C>T	NP_005369.2:p.Ser287Phe
NM_005378.6:c.860C>T MANE Select	NP_005369.2:p.Ser287Phe
NM_001293228.2:c.860C>T	NP_001280157.1:p.Ser287Phe
NM_001293231.2:c.227C>T	NP_001280160.1:p.Ser76Phe
NM_001293233.2:c.*795C>T	NP_001280162.1:n.*795C>T