Canonical Allele Identifier: CA43192483

Gene: MYCN

Linked Data

• dbSNP Id: rs372079635
• gnomAD v4: 2-15945717-G-A
• MyVariant Identifiers: chr2:g.16085839G>A (hg19) ; chr2:g.15945717G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945717G>A , CM000664.2:g.15945717G>A	GRCh38
NC_000002.11:g.16085839G>A , CM000664.1:g.16085839G>A	GRCh37
NC_000002.10:g.16003290G>A	NCBI36
NG_007457.1:g.10157G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.364G>A
ENST00000281043.4:c.1015G>A MANE Select	ENSP00000281043.3:p.Val339Met
ENST00000638417.1:c.382G>A	ENSP00000491476.1:p.Val128Met
ENST00000281043.3:c.1015G>A	ENSP00000281043.3:p.Val339Met
NM_001293228.1:c.1015G>A	NP_001280157.1:p.Val339Met
NM_001293231.1:c.382G>A	NP_001280160.1:p.Val128Met
NM_001293233.1:c.*950G>A	NP_001280162.1:n.*950G>A
NM_005378.5:c.1015G>A	NP_005369.2:p.Val339Met
NM_005378.6:c.1015G>A MANE Select	NP_005369.2:p.Val339Met
NM_001293228.2:c.1015G>A	NP_001280157.1:p.Val339Met
NM_001293231.2:c.382G>A	NP_001280160.1:p.Val128Met
NM_001293233.2:c.*950G>A	NP_001280162.1:n.*950G>A