Canonical Allele Identifier: CA345931726

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945541-T-A
• MyVariant Identifiers: chr2:g.16085663T>A (hg19) ; chr2:g.15945541T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945541T>A , CM000664.2:g.15945541T>A	GRCh38
NC_000002.11:g.16085663T>A , CM000664.1:g.16085663T>A	GRCh37
NC_000002.10:g.16003114T>A	NCBI36
NG_007457.1:g.9981T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.188T>A
ENST00000281043.4:c.839T>A MANE Select	ENSP00000281043.3:p.Val280Asp
ENST00000638417.1:c.206T>A	ENSP00000491476.1:p.Val69Asp
ENST00000281043.3:c.839T>A	ENSP00000281043.3:p.Val280Asp
NM_001293228.1:c.839T>A	NP_001280157.1:p.Val280Asp
NM_001293231.1:c.206T>A	NP_001280160.1:p.Val69Asp
NM_001293233.1:c.*774T>A	NP_001280162.1:n.*774T>A
NM_005378.5:c.839T>A	NP_005369.2:p.Val280Asp
NM_005378.6:c.839T>A MANE Select	NP_005369.2:p.Val280Asp
NM_001293228.2:c.839T>A	NP_001280157.1:p.Val280Asp
NM_001293231.2:c.206T>A	NP_001280160.1:p.Val69Asp
NM_001293233.2:c.*774T>A	NP_001280162.1:n.*774T>A