Canonical Allele Identifier: CA345930003

Gene: MYCN MYCNOS

Linked Data

• ClinVar Variation Id: 2650693
• ClinVar RCV Id: RCV003415508
• MyVariant Identifiers: chr2:g.16082221T>G (hg19) ; chr2:g.15942099T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942099T>G , CM000664.2:g.15942099T>G	GRCh38
NC_000002.11:g.16082221T>G , CM000664.1:g.16082221T>G	GRCh37
NC_000002.10:g.15999672T>G	NCBI36
NG_007457.1:g.6539T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.35T>G (MYCN) MANE Select	ENSP00000281043.3:p.Met12Arg
ENST00000638417.1:c.157+1356T>G (MYCN)	ENSP00000491476.1:n.157+1356T>G
ENST00000281043.3:c.35T>G (MYCN)	ENSP00000281043.3:p.Met12Arg
NM_001293228.1:c.35T>G (MYCN)	NP_001280157.1:p.Met12Arg
NM_001293231.1:c.157+1356T>G (MYCN)	NP_001280160.1:n.157+1356T>G
NM_001293233.1:c.309T>G (MYCN)	NP_001280162.1:p.His103Gln
NM_005378.5:c.35T>G (MYCN)	NP_005369.2:p.Met12Arg
NM_001329968.1:c.-234+53A>C (MYCNOS)	NP_001316897.1:n.-234+53A>C
XM_024452527.1:c.1A>C (MYCNOS)	XP_024308295.1:p.Met1Leu
XM_024452528.1:c.-234+283A>C (MYCNOS)	XP_024308296.1:n.-234+283A>C
NM_005378.6:c.35T>G (MYCN) MANE Select	NP_005369.2:p.Met12Arg
NM_001293228.2:c.35T>G (MYCN)	NP_001280157.1:p.Met12Arg
NM_001293231.2:c.157+1356T>G (MYCN)	NP_001280160.1:n.157+1356T>G
NM_001293233.2:c.309T>G (MYCN)	NP_001280162.1:p.His103Gln
NR_161163.1:n.282+53A>C (MYCNOS)