Canonical Allele Identifier: CA1538109

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs772399455
• ExAC: 2:16082218 G / C
• gnomAD v2: 2-16082218-G-C
• gnomAD v4: 2-15942096-G-C
• MyVariant Identifiers: chr2:g.16082218G>C (hg19) ; chr2:g.15942096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942096G>C , CM000664.2:g.15942096G>C	GRCh38
NC_000002.11:g.16082218G>C , CM000664.1:g.16082218G>C	GRCh37
NC_000002.10:g.15999669G>C	NCBI36
NG_007457.1:g.6536G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.32G>C (MYCN) MANE Select	ENSP00000281043.3:p.Gly11Ala
ENST00000638417.1:c.157+1353G>C (MYCN)	ENSP00000491476.1:n.157+1353G>C
ENST00000281043.3:c.32G>C (MYCN)	ENSP00000281043.3:p.Gly11Ala
NM_001293228.1:c.32G>C (MYCN)	NP_001280157.1:p.Gly11Ala
NM_001293231.1:c.157+1353G>C (MYCN)	NP_001280160.1:n.157+1353G>C
NM_001293233.1:c.306G>C (MYCN)	NP_001280162.1:p.Gly102=
NM_005378.5:c.32G>C (MYCN)	NP_005369.2:p.Gly11Ala
NM_001329968.1:c.-234+56C>G (MYCNOS)	NP_001316897.1:n.-234+56C>G
XM_024452527.1:c.4C>G (MYCNOS)	XP_024308295.1:p.Pro2Ala
XM_024452528.1:c.-234+286C>G (MYCNOS)	XP_024308296.1:n.-234+286C>G
NM_005378.6:c.32G>C (MYCN) MANE Select	NP_005369.2:p.Gly11Ala
NM_001293228.2:c.32G>C (MYCN)	NP_001280157.1:p.Gly11Ala
NM_001293231.2:c.157+1353G>C (MYCN)	NP_001280160.1:n.157+1353G>C
NM_001293233.2:c.306G>C (MYCN)	NP_001280162.1:p.Gly102=
NR_161163.1:n.282+56C>G (MYCNOS)