Canonical Allele Identifier: CA345932075

Gene: MYCN

Linked Data

• ClinVar Variation Id: 2650695
• ClinVar RCV Id: RCV003407166
• dbSNP Id: rs1662847362
• MyVariant Identifiers: chr2:g.16085833C>A (hg19) ; chr2:g.15945711C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945711C>A , CM000664.2:g.15945711C>A	GRCh38
NC_000002.11:g.16085833C>A , CM000664.1:g.16085833C>A	GRCh37
NC_000002.10:g.16003284C>A	NCBI36
NG_007457.1:g.10151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.358C>A
ENST00000281043.4:c.1009C>A MANE Select	ENSP00000281043.3:p.Pro337Thr
ENST00000638417.1:c.376C>A	ENSP00000491476.1:p.Pro126Thr
ENST00000281043.3:c.1009C>A	ENSP00000281043.3:p.Pro337Thr
NM_001293228.1:c.1009C>A	NP_001280157.1:p.Pro337Thr
NM_001293231.1:c.376C>A	NP_001280160.1:p.Pro126Thr
NM_001293233.1:c.*944C>A	NP_001280162.1:n.*944C>A
NM_005378.5:c.1009C>A	NP_005369.2:p.Pro337Thr
NM_005378.6:c.1009C>A MANE Select	NP_005369.2:p.Pro337Thr
NM_001293228.2:c.1009C>A	NP_001280157.1:p.Pro337Thr
NM_001293231.2:c.376C>A	NP_001280160.1:p.Pro126Thr
NM_001293233.2:c.*944C>A	NP_001280162.1:n.*944C>A