Canonical Allele Identifier: CA345930224

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs1295910814
• gnomAD v2: 2-16082319-C-G
• gnomAD v3: 2-15942197-C-G
• gnomAD v4: 2-15942197-C-G
• MyVariant Identifiers: chr2:g.16082319C>G (hg19) ; chr2:g.15942197C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942197C>G , CM000664.2:g.15942197C>G	GRCh38
NC_000002.11:g.16082319C>G , CM000664.1:g.16082319C>G	GRCh37
NC_000002.10:g.15999770C>G	NCBI36
NG_007457.1:g.6637C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281043.4:c.133C>G (MYCN) MANE Select	ENSP00000281043.3:p.Pro45Ala
ENST00000638417.1:c.157+1454C>G (MYCN)	ENSP00000491476.1:n.157+1454C>G
ENST00000281043.3:c.133C>G (MYCN)	ENSP00000281043.3:p.Pro45Ala
NM_001293228.1:c.133C>G (MYCN)	NP_001280157.1:p.Pro45Ala
NM_001293231.1:c.157+1454C>G (MYCN)	NP_001280160.1:n.157+1454C>G
NM_001293233.1:c.*68C>G (MYCN)	NP_001280162.1:n.*68C>G
NM_005378.5:c.133C>G (MYCN)	NP_005369.2:p.Pro45Ala
NM_001329968.1:c.-279G>C (MYCNOS)	NP_001316897.1:n.-279G>C
XM_024452528.1:c.-234+185G>C (MYCNOS)	XP_024308296.1:n.-234+185G>C
NM_005378.6:c.133C>G (MYCN) MANE Select	NP_005369.2:p.Pro45Ala
NM_001293228.2:c.133C>G (MYCN)	NP_001280157.1:p.Pro45Ala
NM_001293231.2:c.157+1454C>G (MYCN)	NP_001280160.1:n.157+1454C>G
NM_001293233.2:c.*68C>G (MYCN)	NP_001280162.1:n.*68C>G
NR_161163.1:n.237G>C (MYCNOS)