Canonical Allele Identifier: CA345931942

Gene: MYCN

Linked Data

• dbSNP Id: rs771271810
• gnomAD v4: 2-15945651-G-A
• COSMIC: COSM5535014
• MyVariant Identifiers: chr2:g.16085773G>A (hg19) ; chr2:g.15945651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945651G>A , CM000664.2:g.15945651G>A	GRCh38
NC_000002.11:g.16085773G>A , CM000664.1:g.16085773G>A	GRCh37
NC_000002.10:g.16003224G>A	NCBI36
NG_007457.1:g.10091G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.298G>A
ENST00000281043.4:c.949G>A MANE Select	ENSP00000281043.3:p.Glu317Lys
ENST00000638417.1:c.316G>A	ENSP00000491476.1:p.Glu106Lys
ENST00000281043.3:c.949G>A	ENSP00000281043.3:p.Glu317Lys
NM_001293228.1:c.949G>A	NP_001280157.1:p.Glu317Lys
NM_001293231.1:c.316G>A	NP_001280160.1:p.Glu106Lys
NM_001293233.1:c.*884G>A	NP_001280162.1:n.*884G>A
NM_005378.5:c.949G>A	NP_005369.2:p.Glu317Lys
NM_005378.6:c.949G>A MANE Select	NP_005369.2:p.Glu317Lys
NM_001293228.2:c.949G>A	NP_001280157.1:p.Glu317Lys
NM_001293231.2:c.316G>A	NP_001280160.1:p.Glu106Lys
NM_001293233.2:c.*884G>A	NP_001280162.1:n.*884G>A