Canonical Allele Identifier: CA43192475

Gene: MYCN

Linked Data

• dbSNP Id: rs376496392
• gnomAD v2: 2-16085632-G-A
• MyVariant Identifiers: chr2:g.16085632G>A (hg19) ; chr2:g.15945510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945510G>A , CM000664.2:g.15945510G>A	GRCh38
NC_000002.11:g.16085632G>A , CM000664.1:g.16085632G>A	GRCh37
NC_000002.10:g.16003083G>A	NCBI36
NG_007457.1:g.9950G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.157G>A
ENST00000281043.4:c.808G>A MANE Select	ENSP00000281043.3:p.Glu270Lys
ENST00000638417.1:c.175G>A	ENSP00000491476.1:p.Glu59Lys
ENST00000281043.3:c.808G>A	ENSP00000281043.3:p.Glu270Lys
NM_001293228.1:c.808G>A	NP_001280157.1:p.Glu270Lys
NM_001293231.1:c.175G>A	NP_001280160.1:p.Glu59Lys
NM_001293233.1:c.*743G>A	NP_001280162.1:n.*743G>A
NM_005378.5:c.808G>A	NP_005369.2:p.Glu270Lys
NM_005378.6:c.808G>A MANE Select	NP_005369.2:p.Glu270Lys
NM_001293228.2:c.808G>A	NP_001280157.1:p.Glu270Lys
NM_001293231.2:c.175G>A	NP_001280160.1:p.Glu59Lys
NM_001293233.2:c.*743G>A	NP_001280162.1:n.*743G>A