Canonical Allele Identifier: CA345931608

Gene: MYCN

Linked Data

• dbSNP Id: rs1303025116
• gnomAD v2: 2-16085615-A-G
• gnomAD v4: 2-15945493-A-G
• MyVariant Identifiers: chr2:g.16085615A>G (hg19) ; chr2:g.15945493A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945493A>G , CM000664.2:g.15945493A>G	GRCh38
NC_000002.11:g.16085615A>G , CM000664.1:g.16085615A>G	GRCh37
NC_000002.10:g.16003066A>G	NCBI36
NG_007457.1:g.9933A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.140A>G
ENST00000281043.4:c.791A>G MANE Select	ENSP00000281043.3:p.Asp264Gly
ENST00000638417.1:c.158A>G	ENSP00000491476.1:p.Asp53Gly
ENST00000281043.3:c.791A>G	ENSP00000281043.3:p.Asp264Gly
NM_001293228.1:c.791A>G	NP_001280157.1:p.Asp264Gly
NM_001293231.1:c.158A>G	NP_001280160.1:p.Asp53Gly
NM_001293233.1:c.*726A>G	NP_001280162.1:n.*726A>G
NM_005378.5:c.791A>G	NP_005369.2:p.Asp264Gly
NM_005378.6:c.791A>G MANE Select	NP_005369.2:p.Asp264Gly
NM_001293228.2:c.791A>G	NP_001280157.1:p.Asp264Gly
NM_001293231.2:c.158A>G	NP_001280160.1:p.Asp53Gly
NM_001293233.2:c.*726A>G	NP_001280162.1:n.*726A>G