Canonical Allele Identifier: CA345931905

Gene: MYCN

Linked Data

• dbSNP Id: rs2103330708
• MyVariant Identifiers: chr2:g.16085753C>T (hg19) ; chr2:g.15945631C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945631C>T , CM000664.2:g.15945631C>T	GRCh38
NC_000002.11:g.16085753C>T , CM000664.1:g.16085753C>T	GRCh37
NC_000002.10:g.16003204C>T	NCBI36
NG_007457.1:g.10071C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.278C>T
ENST00000281043.4:c.929C>T MANE Select	ENSP00000281043.3:p.Pro310Leu
ENST00000638417.1:c.296C>T	ENSP00000491476.1:p.Pro99Leu
ENST00000281043.3:c.929C>T	ENSP00000281043.3:p.Pro310Leu
NM_001293228.1:c.929C>T	NP_001280157.1:p.Pro310Leu
NM_001293231.1:c.296C>T	NP_001280160.1:p.Pro99Leu
NM_001293233.1:c.*864C>T	NP_001280162.1:n.*864C>T
NM_005378.5:c.929C>T	NP_005369.2:p.Pro310Leu
NM_005378.6:c.929C>T MANE Select	NP_005369.2:p.Pro310Leu
NM_001293228.2:c.929C>T	NP_001280157.1:p.Pro310Leu
NM_001293231.2:c.296C>T	NP_001280160.1:p.Pro99Leu
NM_001293233.2:c.*864C>T	NP_001280162.1:n.*864C>T