Canonical Allele Identifier: CA345931809

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945582-G-T
• MyVariant Identifiers: chr2:g.16085704G>T (hg19) ; chr2:g.15945582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945582G>T , CM000664.2:g.15945582G>T	GRCh38
NC_000002.11:g.16085704G>T , CM000664.1:g.16085704G>T	GRCh37
NC_000002.10:g.16003155G>T	NCBI36
NG_007457.1:g.10022G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.229G>T
ENST00000281043.4:c.880G>T MANE Select	ENSP00000281043.3:p.Val294Phe
ENST00000638417.1:c.247G>T	ENSP00000491476.1:p.Val83Phe
ENST00000281043.3:c.880G>T	ENSP00000281043.3:p.Val294Phe
NM_001293228.1:c.880G>T	NP_001280157.1:p.Val294Phe
NM_001293231.1:c.247G>T	NP_001280160.1:p.Val83Phe
NM_001293233.1:c.*815G>T	NP_001280162.1:n.*815G>T
NM_005378.5:c.880G>T	NP_005369.2:p.Val294Phe
NM_005378.6:c.880G>T MANE Select	NP_005369.2:p.Val294Phe
NM_001293228.2:c.880G>T	NP_001280157.1:p.Val294Phe
NM_001293231.2:c.247G>T	NP_001280160.1:p.Val83Phe
NM_001293233.2:c.*815G>T	NP_001280162.1:n.*815G>T