Canonical Allele Identifier: CA345932087

Gene: MYCN

Linked Data

• ClinVar Variation Id: 433149
• ClinVar RCV Id: RCV000498569
• dbSNP Id: rs367962377
• MyVariant Identifiers: chr2:g.16085838C>A (hg19) ; chr2:g.15945716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945716C>A , CM000664.2:g.15945716C>A	GRCh38
NC_000002.11:g.16085838C>A , CM000664.1:g.16085838C>A	GRCh37
NC_000002.10:g.16003289C>A	NCBI36
NG_007457.1:g.10156C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.363C>A
ENST00000281043.4:c.1014C>A MANE Select	ENSP00000281043.3:p.Tyr338Ter
ENST00000638417.1:c.381C>A	ENSP00000491476.1:p.Tyr127Ter
ENST00000281043.3:c.1014C>A	ENSP00000281043.3:p.Tyr338Ter
NM_001293228.1:c.1014C>A	NP_001280157.1:p.Tyr338Ter
NM_001293231.1:c.381C>A	NP_001280160.1:p.Tyr127Ter
NM_001293233.1:c.*949C>A	NP_001280162.1:n.*949C>A
NM_005378.5:c.1014C>A	NP_005369.2:p.Tyr338Ter
NM_005378.6:c.1014C>A MANE Select	NP_005369.2:p.Tyr338Ter
NM_001293228.2:c.1014C>A	NP_001280157.1:p.Tyr338Ter
NM_001293231.2:c.381C>A	NP_001280160.1:p.Tyr127Ter
NM_001293233.2:c.*949C>A	NP_001280162.1:n.*949C>A