Canonical Allele Identifier: CA345929997

Gene: MYCN MYCNOS

Linked Data

• dbSNP Id: rs2103323221
• gnomAD v4: 2-15942095-G-A
• MyVariant Identifiers: chr2:g.16082217G>A (hg19) ; chr2:g.15942095G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942095G>A , CM000664.2:g.15942095G>A	GRCh38
NC_000002.11:g.16082217G>A , CM000664.1:g.16082217G>A	GRCh37
NC_000002.10:g.15999668G>A	NCBI36
NG_007457.1:g.6535G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.31G>A (MYCN) MANE Select	ENSP00000281043.3:p.Gly11Ser
ENST00000638417.1:c.157+1352G>A (MYCN)	ENSP00000491476.1:n.157+1352G>A
ENST00000281043.3:c.31G>A (MYCN)	ENSP00000281043.3:p.Gly11Ser
NM_001293228.1:c.31G>A (MYCN)	NP_001280157.1:p.Gly11Ser
NM_001293231.1:c.157+1352G>A (MYCN)	NP_001280160.1:n.157+1352G>A
NM_001293233.1:c.305G>A (MYCN)	NP_001280162.1:p.Gly102Glu
NM_005378.5:c.31G>A (MYCN)	NP_005369.2:p.Gly11Ser
NM_001329968.1:c.-234+57C>T (MYCNOS)	NP_001316897.1:n.-234+57C>T
XM_024452527.1:c.5C>T (MYCNOS)	XP_024308295.1:p.Pro2Leu
XM_024452528.1:c.-234+287C>T (MYCNOS)	XP_024308296.1:n.-234+287C>T
NM_005378.6:c.31G>A (MYCN) MANE Select	NP_005369.2:p.Gly11Ser
NM_001293228.2:c.31G>A (MYCN)	NP_001280157.1:p.Gly11Ser
NM_001293231.2:c.157+1352G>A (MYCN)	NP_001280160.1:n.157+1352G>A
NM_001293233.2:c.305G>A (MYCN)	NP_001280162.1:p.Gly102Glu
NR_161163.1:n.282+57C>T (MYCNOS)