Canonical Allele Identifier: CA1538261

Gene: MYCN

Linked Data

• ClinVar Variation Id: 1684292
• ClinVar RCV Id: RCV002245298
• dbSNP Id: rs747134309
• ExAC: 2:16085678 G / T
• gnomAD v2: 2-16085678-G-T
• gnomAD v3: 2-15945556-G-T
• gnomAD v4: 2-15945556-G-T
• MyVariant Identifiers: chr2:g.16085678G>T (hg19) ; chr2:g.15945556G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945556G>T , CM000664.2:g.15945556G>T	GRCh38
NC_000002.11:g.16085678G>T , CM000664.1:g.16085678G>T	GRCh37
NC_000002.10:g.16003129G>T	NCBI36
NG_007457.1:g.9996G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.203G>T
ENST00000281043.4:c.854G>T MANE Select	ENSP00000281043.3:p.Arg285Leu
ENST00000638417.1:c.221G>T	ENSP00000491476.1:p.Arg74Leu
ENST00000281043.3:c.854G>T	ENSP00000281043.3:p.Arg285Leu
NM_001293228.1:c.854G>T	NP_001280157.1:p.Arg285Leu
NM_001293231.1:c.221G>T	NP_001280160.1:p.Arg74Leu
NM_001293233.1:c.*789G>T	NP_001280162.1:n.*789G>T
NM_005378.5:c.854G>T	NP_005369.2:p.Arg285Leu
NM_005378.6:c.854G>T MANE Select	NP_005369.2:p.Arg285Leu
NM_001293228.2:c.854G>T	NP_001280157.1:p.Arg285Leu
NM_001293231.2:c.221G>T	NP_001280160.1:p.Arg74Leu
NM_001293233.2:c.*789G>T	NP_001280162.1:n.*789G>T