Canonical Allele Identifier: CA43192478

Gene: MYCN

Linked Data

• dbSNP Id: rs781383863
• gnomAD v2: 2-16085754-C-G
• gnomAD v3: 2-15945632-C-G
• gnomAD v4: 2-15945632-C-G
• MyVariant Identifiers: chr2:g.16085754C>G (hg19) ; chr2:g.15945632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945632C>G , CM000664.2:g.15945632C>G	GRCh38
NC_000002.11:g.16085754C>G , CM000664.1:g.16085754C>G	GRCh37
NC_000002.10:g.16003205C>G	NCBI36
NG_007457.1:g.10072C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.279C>G
ENST00000281043.4:c.930C>G MANE Select	ENSP00000281043.3:p.Pro310=
ENST00000638417.1:c.297C>G	ENSP00000491476.1:p.Pro99=
ENST00000281043.3:c.930C>G	ENSP00000281043.3:p.Pro310=
NM_001293228.1:c.930C>G	NP_001280157.1:p.Pro310=
NM_001293231.1:c.297C>G	NP_001280160.1:p.Pro99=
NM_001293233.1:c.*865C>G	NP_001280162.1:n.*865C>G
NM_005378.5:c.930C>G	NP_005369.2:p.Pro310=
NM_005378.6:c.930C>G MANE Select	NP_005369.2:p.Pro310=
NM_001293228.2:c.930C>G	NP_001280157.1:p.Pro310=
NM_001293231.2:c.297C>G	NP_001280160.1:p.Pro99=
NM_001293233.2:c.*865C>G	NP_001280162.1:n.*865C>G