Canonical Allele Identifier: CA345931777

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945568-C-G
• MyVariant Identifiers: chr2:g.16085690C>G (hg19) ; chr2:g.15945568C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945568C>G , CM000664.2:g.15945568C>G	GRCh38
NC_000002.11:g.16085690C>G , CM000664.1:g.16085690C>G	GRCh37
NC_000002.10:g.16003141C>G	NCBI36
NG_007457.1:g.10008C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.215C>G
ENST00000281043.4:c.866C>G MANE Select	ENSP00000281043.3:p.Ser289Cys
ENST00000638417.1:c.233C>G	ENSP00000491476.1:p.Ser78Cys
ENST00000281043.3:c.866C>G	ENSP00000281043.3:p.Ser289Cys
NM_001293228.1:c.866C>G	NP_001280157.1:p.Ser289Cys
NM_001293231.1:c.233C>G	NP_001280160.1:p.Ser78Cys
NM_001293233.1:c.*801C>G	NP_001280162.1:n.*801C>G
NM_005378.5:c.866C>G	NP_005369.2:p.Ser289Cys
NM_005378.6:c.866C>G MANE Select	NP_005369.2:p.Ser289Cys
NM_001293228.2:c.866C>G	NP_001280157.1:p.Ser289Cys
NM_001293231.2:c.233C>G	NP_001280160.1:p.Ser78Cys
NM_001293233.2:c.*801C>G	NP_001280162.1:n.*801C>G