Canonical Allele Identifier: CA425092591
Gene: MYCN HGNC NCBI

Linked Data

dbSNP Id: rs748246058
MyVariant Identifiers: chr2:g.16085850G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945728G>A , CM000664.2:g.15945728G>A GRCh38
NC_000002.11:g.16085850G>A , CM000664.1:g.16085850G>A GRCh37
NC_000002.10:g.16003301G>A NCBI36
NG_007457.1:g.10168G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.375G>A
ENST00000281043.4:c.1026G>A MANE Select ENSP00000281043.3:p.Glu342=
ENST00000638417.1:c.393G>A ENSP00000491476.1:p.Glu131=
ENST00000281043.3:c.1026G>A ENSP00000281043.3:p.Glu342=
NM_001293228.1:c.1026G>A NP_001280157.1:p.Glu342=
NM_001293231.1:c.393G>A NP_001280160.1:p.Glu131=
NM_001293233.1:c.*961G>A NP_001280162.1:n.*961G>A
NM_005378.5:c.1026G>A NP_005369.2:p.Glu342=
NM_005378.6:c.1026G>A MANE Select NP_005369.2:p.Glu342=
NM_001293228.2:c.1026G>A NP_001280157.1:p.Glu342=
NM_001293231.2:c.393G>A NP_001280160.1:p.Glu131=
NM_001293233.2:c.*961G>A NP_001280162.1:n.*961G>A