Canonical Allele Identifier: CA345932055

Gene: MYCN

Linked Data

• MyVariant Identifiers: chr2:g.16085822C>A (hg19) ; chr2:g.15945700C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945700C>A , CM000664.2:g.15945700C>A	GRCh38
NC_000002.11:g.16085822C>A , CM000664.1:g.16085822C>A	GRCh37
NC_000002.10:g.16003273C>A	NCBI36
NG_007457.1:g.10140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.347C>A
ENST00000281043.4:c.998C>A MANE Select	ENSP00000281043.3:p.Ala333Asp
ENST00000638417.1:c.365C>A	ENSP00000491476.1:p.Ala122Asp
ENST00000281043.3:c.998C>A	ENSP00000281043.3:p.Ala333Asp
NM_001293228.1:c.998C>A	NP_001280157.1:p.Ala333Asp
NM_001293231.1:c.365C>A	NP_001280160.1:p.Ala122Asp
NM_001293233.1:c.*933C>A	NP_001280162.1:n.*933C>A
NM_005378.5:c.998C>A	NP_005369.2:p.Ala333Asp
NM_005378.6:c.998C>A MANE Select	NP_005369.2:p.Ala333Asp
NM_001293228.2:c.998C>A	NP_001280157.1:p.Ala333Asp
NM_001293231.2:c.365C>A	NP_001280160.1:p.Ala122Asp
NM_001293233.2:c.*933C>A	NP_001280162.1:n.*933C>A