Canonical Allele Identifier: CA43192481

Gene: MYCN

Linked Data

• dbSNP Id: rs930200887
• MyVariant Identifiers: chr2:g.16085791T>C (hg19) ; chr2:g.15945669T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945669T>C , CM000664.2:g.15945669T>C	GRCh38
NC_000002.11:g.16085791T>C , CM000664.1:g.16085791T>C	GRCh37
NC_000002.10:g.16003242T>C	NCBI36
NG_007457.1:g.10109T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.316T>C
ENST00000281043.4:c.967T>C MANE Select	ENSP00000281043.3:p.Cys323Arg
ENST00000638417.1:c.334T>C	ENSP00000491476.1:p.Cys112Arg
ENST00000281043.3:c.967T>C	ENSP00000281043.3:p.Cys323Arg
NM_001293228.1:c.967T>C	NP_001280157.1:p.Cys323Arg
NM_001293231.1:c.334T>C	NP_001280160.1:p.Cys112Arg
NM_001293233.1:c.*902T>C	NP_001280162.1:n.*902T>C
NM_005378.5:c.967T>C	NP_005369.2:p.Cys323Arg
NM_005378.6:c.967T>C MANE Select	NP_005369.2:p.Cys323Arg
NM_001293228.2:c.967T>C	NP_001280157.1:p.Cys323Arg
NM_001293231.2:c.334T>C	NP_001280160.1:p.Cys112Arg
NM_001293233.2:c.*902T>C	NP_001280162.1:n.*902T>C