Canonical Allele Identifier: CA425057051

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945575-C-A
• MyVariant Identifiers: chr2:g.16085697C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945575C>A , CM000664.2:g.15945575C>A	GRCh38
NC_000002.11:g.16085697C>A , CM000664.1:g.16085697C>A	GRCh37
NC_000002.10:g.16003148C>A	NCBI36
NG_007457.1:g.10015C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.222C>A
ENST00000281043.4:c.873C>A MANE Select	ENSP00000281043.3:p.Thr291=
ENST00000638417.1:c.240C>A	ENSP00000491476.1:p.Thr80=
ENST00000281043.3:c.873C>A	ENSP00000281043.3:p.Thr291=
NM_001293228.1:c.873C>A	NP_001280157.1:p.Thr291=
NM_001293231.1:c.240C>A	NP_001280160.1:p.Thr80=
NM_001293233.1:c.*808C>A	NP_001280162.1:n.*808C>A
NM_005378.5:c.873C>A	NP_005369.2:p.Thr291=
NM_005378.6:c.873C>A MANE Select	NP_005369.2:p.Thr291=
NM_001293228.2:c.873C>A	NP_001280157.1:p.Thr291=
NM_001293231.2:c.240C>A	NP_001280160.1:p.Thr80=
NM_001293233.2:c.*808C>A	NP_001280162.1:n.*808C>A