Canonical Allele Identifier: CA345932143

Gene: MYCN

Linked Data

• dbSNP Id: rs1558536206
• COSMIC: COSM1727920
• MyVariant Identifiers: chr2:g.16085864A>G (hg19) ; chr2:g.15945742A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945742A>G , CM000664.2:g.15945742A>G	GRCh38
NC_000002.11:g.16085864A>G , CM000664.1:g.16085864A>G	GRCh37
NC_000002.10:g.16003315A>G	NCBI36
NG_007457.1:g.10182A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.389A>G
ENST00000281043.4:c.1040A>G MANE Select	ENSP00000281043.3:p.Gln347Arg
ENST00000638417.1:c.407A>G	ENSP00000491476.1:p.Gln136Arg
ENST00000281043.3:c.1040A>G	ENSP00000281043.3:p.Gln347Arg
NM_001293228.1:c.1040A>G	NP_001280157.1:p.Gln347Arg
NM_001293231.1:c.407A>G	NP_001280160.1:p.Gln136Arg
NM_001293233.1:c.*975A>G	NP_001280162.1:n.*975A>G
NM_005378.5:c.1040A>G	NP_005369.2:p.Gln347Arg
NM_005378.6:c.1040A>G MANE Select	NP_005369.2:p.Gln347Arg
NM_001293228.2:c.1040A>G	NP_001280157.1:p.Gln347Arg
NM_001293231.2:c.407A>G	NP_001280160.1:p.Gln136Arg
NM_001293233.2:c.*975A>G	NP_001280162.1:n.*975A>G