Canonical Allele Identifier: CA345931741

Gene: MYCN

Linked Data

• MyVariant Identifiers: chr2:g.16085671G>C (hg19) ; chr2:g.15945549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945549G>C , CM000664.2:g.15945549G>C	GRCh38
NC_000002.11:g.16085671G>C , CM000664.1:g.16085671G>C	GRCh37
NC_000002.10:g.16003122G>C	NCBI36
NG_007457.1:g.9989G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.196G>C
ENST00000281043.4:c.847G>C MANE Select	ENSP00000281043.3:p.Glu283Gln
ENST00000638417.1:c.214G>C	ENSP00000491476.1:p.Glu72Gln
ENST00000281043.3:c.847G>C	ENSP00000281043.3:p.Glu283Gln
NM_001293228.1:c.847G>C	NP_001280157.1:p.Glu283Gln
NM_001293231.1:c.214G>C	NP_001280160.1:p.Glu72Gln
NM_001293233.1:c.*782G>C	NP_001280162.1:n.*782G>C
NM_005378.5:c.847G>C	NP_005369.2:p.Glu283Gln
NM_005378.6:c.847G>C MANE Select	NP_005369.2:p.Glu283Gln
NM_001293228.2:c.847G>C	NP_001280157.1:p.Glu283Gln
NM_001293231.2:c.214G>C	NP_001280160.1:p.Glu72Gln
NM_001293233.2:c.*782G>C	NP_001280162.1:n.*782G>C