Canonical Allele Identifier: CA345931884

Gene: MYCN

Linked Data

• dbSNP Id: rs2103330657
• COSMIC: COSM4562256
• MyVariant Identifiers: chr2:g.16085743G>A (hg19) ; chr2:g.15945621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945621G>A , CM000664.2:g.15945621G>A	GRCh38
NC_000002.11:g.16085743G>A , CM000664.1:g.16085743G>A	GRCh37
NC_000002.10:g.16003194G>A	NCBI36
NG_007457.1:g.10061G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.268G>A
ENST00000281043.4:c.919G>A MANE Select	ENSP00000281043.3:p.Ala307Thr
ENST00000638417.1:c.286G>A	ENSP00000491476.1:p.Ala96Thr
ENST00000281043.3:c.919G>A	ENSP00000281043.3:p.Ala307Thr
NM_001293228.1:c.919G>A	NP_001280157.1:p.Ala307Thr
NM_001293231.1:c.286G>A	NP_001280160.1:p.Ala96Thr
NM_001293233.1:c.*854G>A	NP_001280162.1:n.*854G>A
NM_005378.5:c.919G>A	NP_005369.2:p.Ala307Thr
NM_005378.6:c.919G>A MANE Select	NP_005369.2:p.Ala307Thr
NM_001293228.2:c.919G>A	NP_001280157.1:p.Ala307Thr
NM_001293231.2:c.286G>A	NP_001280160.1:p.Ala96Thr
NM_001293233.2:c.*854G>A	NP_001280162.1:n.*854G>A