Canonical Allele Identifier: CA257013

Gene: MYCN

Linked Data

• ClinVar Variation Id: 13894
• ClinVar RCV Id: RCV000014908
• dbSNP Id: rs104893648
• gnomAD v4: 2-15945883-G-A
• MyVariant Identifiers: chr2:g.16086005G>A (hg19) ; chr2:g.15945883G>A (hg38)
• PubMed: PMID:15821734

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945883G>A , CM000664.2:g.15945883G>A	GRCh38
NC_000002.11:g.16086005G>A , CM000664.1:g.16086005G>A	GRCh37
NC_000002.10:g.16003456G>A	NCBI36
NG_007457.1:g.10323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.530G>A
ENST00000281043.4:c.1181G>A MANE Select	ENSP00000281043.3:p.Arg394His
ENST00000638417.1:c.548G>A	ENSP00000491476.1:p.Arg183His
ENST00000281043.3:c.1181G>A	ENSP00000281043.3:p.Arg394His
NM_001293228.1:c.1181G>A	NP_001280157.1:p.Arg394His
NM_001293231.1:c.548G>A	NP_001280160.1:p.Arg183His
NM_001293233.1:c.*1116G>A	NP_001280162.1:n.*1116G>A
NM_005378.5:c.1181G>A	NP_005369.2:p.Arg394His
NM_005378.6:c.1181G>A MANE Select	NP_005369.2:p.Arg394His
NM_001293228.2:c.1181G>A	NP_001280157.1:p.Arg394His
NM_001293231.2:c.548G>A	NP_001280160.1:p.Arg183His
NM_001293233.2:c.*1116G>A	NP_001280162.1:n.*1116G>A