Canonical Allele Identifier: CA345930248

Gene: MYCN MYCNOS

Linked Data

• MyVariant Identifiers: chr2:g.16082329A>C (hg19) ; chr2:g.15942207A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942207A>C , CM000664.2:g.15942207A>C	GRCh38
NC_000002.11:g.16082329A>C , CM000664.1:g.16082329A>C	GRCh37
NC_000002.10:g.15999780A>C	NCBI36
NG_007457.1:g.6647A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000281043.4:c.143A>C (MYCN) MANE Select	ENSP00000281043.3:p.Asp48Ala
ENST00000638417.1:c.157+1464A>C (MYCN)	ENSP00000491476.1:n.157+1464A>C
ENST00000281043.3:c.143A>C (MYCN)	ENSP00000281043.3:p.Asp48Ala
NM_001293228.1:c.143A>C (MYCN)	NP_001280157.1:p.Asp48Ala
NM_001293231.1:c.157+1464A>C (MYCN)	NP_001280160.1:n.157+1464A>C
NM_001293233.1:c.*78A>C (MYCN)	NP_001280162.1:n.*78A>C
NM_005378.5:c.143A>C (MYCN)	NP_005369.2:p.Asp48Ala
NM_001329968.1:c.-289T>G (MYCNOS)	NP_001316897.1:n.-289T>G
XM_024452528.1:c.-234+175T>G (MYCNOS)	XP_024308296.1:n.-234+175T>G
NM_005378.6:c.143A>C (MYCN) MANE Select	NP_005369.2:p.Asp48Ala
NM_001293228.2:c.143A>C (MYCN)	NP_001280157.1:p.Asp48Ala
NM_001293231.2:c.157+1464A>C (MYCN)	NP_001280160.1:n.157+1464A>C
NM_001293233.2:c.*78A>C (MYCN)	NP_001280162.1:n.*78A>C
NR_161163.1:n.227T>G (MYCNOS)