Canonical Allele Identifier: CA345930225

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs1295910814
• gnomAD v4: 2-15942197-C-T
• MyVariant Identifiers: chr2:g.16082319C>T (hg19) ; chr2:g.15942197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942197C>T , CM000664.2:g.15942197C>T	GRCh38
NC_000002.11:g.16082319C>T , CM000664.1:g.16082319C>T	GRCh37
NC_000002.10:g.15999770C>T	NCBI36
NG_007457.1:g.6637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.133C>T (MYCN) MANE Select	ENSP00000281043.3:p.Pro45Ser
ENST00000638417.1:c.157+1454C>T (MYCN)	ENSP00000491476.1:n.157+1454C>T
ENST00000281043.3:c.133C>T (MYCN)	ENSP00000281043.3:p.Pro45Ser
NM_001293228.1:c.133C>T (MYCN)	NP_001280157.1:p.Pro45Ser
NM_001293231.1:c.157+1454C>T (MYCN)	NP_001280160.1:n.157+1454C>T
NM_001293233.1:c.*68C>T (MYCN)	NP_001280162.1:n.*68C>T
NM_005378.5:c.133C>T (MYCN)	NP_005369.2:p.Pro45Ser
NM_001329968.1:c.-279G>A (MYCNOS)	NP_001316897.1:n.-279G>A
XM_024452528.1:c.-234+185G>A (MYCNOS)	XP_024308296.1:n.-234+185G>A
NM_005378.6:c.133C>T (MYCN) MANE Select	NP_005369.2:p.Pro45Ser
NM_001293228.2:c.133C>T (MYCN)	NP_001280157.1:p.Pro45Ser
NM_001293231.2:c.157+1454C>T (MYCN)	NP_001280160.1:n.157+1454C>T
NM_001293233.2:c.*68C>T (MYCN)	NP_001280162.1:n.*68C>T
NR_161163.1:n.237G>A (MYCNOS)