Canonical Allele Identifier: CA1538273

Gene: MYCN

Linked Data

• dbSNP Id: rs752454441
• ExAC: 2:16085735 A / G
• gnomAD v2: 2-16085735-A-G
• gnomAD v4: 2-15945613-A-G
• MyVariant Identifiers: chr2:g.16085735A>G (hg19) ; chr2:g.15945613A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945613A>G , CM000664.2:g.15945613A>G	GRCh38
NC_000002.11:g.16085735A>G , CM000664.1:g.16085735A>G	GRCh37
NC_000002.10:g.16003186A>G	NCBI36
NG_007457.1:g.10053A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.260A>G
ENST00000281043.4:c.911A>G MANE Select	ENSP00000281043.3:p.Lys304Arg
ENST00000638417.1:c.278A>G	ENSP00000491476.1:p.Lys93Arg
ENST00000281043.3:c.911A>G	ENSP00000281043.3:p.Lys304Arg
NM_001293228.1:c.911A>G	NP_001280157.1:p.Lys304Arg
NM_001293231.1:c.278A>G	NP_001280160.1:p.Lys93Arg
NM_001293233.1:c.*846A>G	NP_001280162.1:n.*846A>G
NM_005378.5:c.911A>G	NP_005369.2:p.Lys304Arg
NM_005378.6:c.911A>G MANE Select	NP_005369.2:p.Lys304Arg
NM_001293228.2:c.911A>G	NP_001280157.1:p.Lys304Arg
NM_001293231.2:c.278A>G	NP_001280160.1:p.Lys93Arg
NM_001293233.2:c.*846A>G	NP_001280162.1:n.*846A>G