Canonical Allele Identifier: CA425091858

Gene: MYCN MYCNOS

Linked Data

• ClinVar Variation Id: 2507183
• ClinVar RCV Id: RCV003239074 ; RCV003985880
• gnomAD v2: 2-16082313-AC-A
• gnomAD v4: 2-15942191-AC-A
• COSMIC: COSM1400341
• MyVariant Identifiers: chr2:g.16082314del (hg19) ; chr2:g.15942192del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942198del , CM000664.2:g.15942198del	GRCh38
NC_000002.11:g.16082320del , CM000664.1:g.16082320del	GRCh37
NC_000002.10:g.15999771del	NCBI36
NG_007457.1:g.6638del

Transcript Alleles

HGVS	Amino-acid change
ENST00000281043.4:c.134del (MYCN) MANE Select	ENSP00000281043.3:p.Pro45ArgfsTer?
ENST00000638417.1:c.157+1455del (MYCN)	ENSP00000491476.1:n.157+1455del
ENST00000281043.3:c.134del (MYCN)	ENSP00000281043.3:p.Pro45ArgfsTer?
NM_001293228.1:c.134del (MYCN)	NP_001280157.1:p.Pro45ArgfsTer?
NM_001293231.1:c.157+1455del (MYCN)	NP_001280160.1:n.157+1455del
NM_001293233.1:c.*69del (MYCN)	NP_001280162.1:n.*69del
NM_005378.5:c.134del (MYCN)	NP_005369.2:p.Pro45ArgfsTer?
NM_001329968.1:c.-274del (MYCNOS)	NP_001316897.1:n.-274del
XM_024452528.1:c.-234+190del (MYCNOS)	XP_024308296.1:n.-234+190del
NM_005378.6:c.134del (MYCN) MANE Select	NP_005369.2:p.Pro45ArgfsTer?
NM_001293228.2:c.134del (MYCN)	NP_001280157.1:p.Pro45ArgfsTer?
NM_001293231.2:c.157+1455del (MYCN)	NP_001280160.1:n.157+1455del
NM_001293233.2:c.*69del (MYCN)	NP_001280162.1:n.*69del
NR_161163.1:n.242del (MYCNOS)