Canonical Allele Identifier: CA345932450

Gene: MYCN

Linked Data

• ClinVar Variation Id: 1960211
• ClinVar RCV Id: RCV002706362
• dbSNP Id: rs1558536389
• MyVariant Identifiers: chr2:g.16086004C>T (hg19) ; chr2:g.15945882C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945882C>T , CM000664.2:g.15945882C>T	GRCh38
NC_000002.11:g.16086004C>T , CM000664.1:g.16086004C>T	GRCh37
NC_000002.10:g.16003455C>T	NCBI36
NG_007457.1:g.10322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.529C>T
ENST00000281043.4:c.1180C>T MANE Select	ENSP00000281043.3:p.Arg394Cys
ENST00000638417.1:c.547C>T	ENSP00000491476.1:p.Arg183Cys
ENST00000281043.3:c.1180C>T	ENSP00000281043.3:p.Arg394Cys
NM_001293228.1:c.1180C>T	NP_001280157.1:p.Arg394Cys
NM_001293231.1:c.547C>T	NP_001280160.1:p.Arg183Cys
NM_001293233.1:c.*1115C>T	NP_001280162.1:n.*1115C>T
NM_005378.5:c.1180C>T	NP_005369.2:p.Arg394Cys
NM_005378.6:c.1180C>T MANE Select	NP_005369.2:p.Arg394Cys
NM_001293228.2:c.1180C>T	NP_001280157.1:p.Arg394Cys
NM_001293231.2:c.547C>T	NP_001280160.1:p.Arg183Cys
NM_001293233.2:c.*1115C>T	NP_001280162.1:n.*1115C>T