Canonical Allele Identifier: CA43192482

Gene: MYCN

Linked Data

• dbSNP Id: rs910153043
• gnomAD v4: 2-15945677-C-A
• MyVariant Identifiers: chr2:g.16085799C>A (hg19) ; chr2:g.15945677C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945677C>A , CM000664.2:g.15945677C>A	GRCh38
NC_000002.11:g.16085799C>A , CM000664.1:g.16085799C>A	GRCh37
NC_000002.10:g.16003250C>A	NCBI36
NG_007457.1:g.10117C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.324C>A
ENST00000281043.4:c.975C>A MANE Select	ENSP00000281043.3:p.Pro325=
ENST00000638417.1:c.342C>A	ENSP00000491476.1:p.Pro114=
ENST00000281043.3:c.975C>A	ENSP00000281043.3:p.Pro325=
NM_001293228.1:c.975C>A	NP_001280157.1:p.Pro325=
NM_001293231.1:c.342C>A	NP_001280160.1:p.Pro114=
NM_001293233.1:c.*910C>A	NP_001280162.1:n.*910C>A
NM_005378.5:c.975C>A	NP_005369.2:p.Pro325=
NM_005378.6:c.975C>A MANE Select	NP_005369.2:p.Pro325=
NM_001293228.2:c.975C>A	NP_001280157.1:p.Pro325=
NM_001293231.2:c.342C>A	NP_001280160.1:p.Pro114=
NM_001293233.2:c.*910C>A	NP_001280162.1:n.*910C>A