Canonical Allele Identifier: CA1538245

Gene: MYCN

Linked Data

• ClinVar Variation Id: 2788480
• ClinVar RCV Id: RCV003674087
• dbSNP Id: rs751108330
• ExAC: 2:16085618 A / G
• gnomAD v2: 2-16085618-A-G
• gnomAD v3: 2-15945496-A-G
• gnomAD v4: 2-15945496-A-G
• MyVariant Identifiers: chr2:g.16085618A>G (hg19) ; chr2:g.15945496A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945496A>G , CM000664.2:g.15945496A>G	GRCh38
NC_000002.11:g.16085618A>G , CM000664.1:g.16085618A>G	GRCh37
NC_000002.10:g.16003069A>G	NCBI36
NG_007457.1:g.9936A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.143A>G
ENST00000281043.4:c.794A>G MANE Select	ENSP00000281043.3:p.Asp265Gly
ENST00000638417.1:c.161A>G	ENSP00000491476.1:p.Asp54Gly
ENST00000281043.3:c.794A>G	ENSP00000281043.3:p.Asp265Gly
NM_001293228.1:c.794A>G	NP_001280157.1:p.Asp265Gly
NM_001293231.1:c.161A>G	NP_001280160.1:p.Asp54Gly
NM_001293233.1:c.*729A>G	NP_001280162.1:n.*729A>G
NM_005378.5:c.794A>G	NP_005369.2:p.Asp265Gly
NM_005378.6:c.794A>G MANE Select	NP_005369.2:p.Asp265Gly
NM_001293228.2:c.794A>G	NP_001280157.1:p.Asp265Gly
NM_001293231.2:c.161A>G	NP_001280160.1:p.Asp54Gly
NM_001293233.2:c.*729A>G	NP_001280162.1:n.*729A>G