Canonical Allele Identifier: CA345930222

Gene: MYCN MYCNOS

Linked Data

• ClinVar Variation Id: 3058202
• ClinVar RCV Id: RCV003964731
• dbSNP Id: rs1057519919
• MyVariant Identifiers: chr2:g.16082317C>A (hg19) ; chr2:g.15942195C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942195C>A , CM000664.2:g.15942195C>A	GRCh38
NC_000002.11:g.16082317C>A , CM000664.1:g.16082317C>A	GRCh37
NC_000002.10:g.15999768C>A	NCBI36
NG_007457.1:g.6635C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281043.4:c.131C>A (MYCN) MANE Select	ENSP00000281043.3:p.Pro44His
ENST00000638417.1:c.157+1452C>A (MYCN)	ENSP00000491476.1:n.157+1452C>A
ENST00000281043.3:c.131C>A (MYCN)	ENSP00000281043.3:p.Pro44His
NM_001293228.1:c.131C>A (MYCN)	NP_001280157.1:p.Pro44His
NM_001293231.1:c.157+1452C>A (MYCN)	NP_001280160.1:n.157+1452C>A
NM_001293233.1:c.*66C>A (MYCN)	NP_001280162.1:n.*66C>A
NM_005378.5:c.131C>A (MYCN)	NP_005369.2:p.Pro44His
NM_001329968.1:c.-277G>T (MYCNOS)	NP_001316897.1:n.-277G>T
XM_024452528.1:c.-234+187G>T (MYCNOS)	XP_024308296.1:n.-234+187G>T
NM_005378.6:c.131C>A (MYCN) MANE Select	NP_005369.2:p.Pro44His
NM_001293228.2:c.131C>A (MYCN)	NP_001280157.1:p.Pro44His
NM_001293231.2:c.157+1452C>A (MYCN)	NP_001280160.1:n.157+1452C>A
NM_001293233.2:c.*66C>A (MYCN)	NP_001280162.1:n.*66C>A
NR_161163.1:n.239G>T (MYCNOS)