Canonical Allele Identifier: CA345931812

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945583-T-C
• MyVariant Identifiers: chr2:g.16085705T>C (hg19) ; chr2:g.15945583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945583T>C , CM000664.2:g.15945583T>C	GRCh38
NC_000002.11:g.16085705T>C , CM000664.1:g.16085705T>C	GRCh37
NC_000002.10:g.16003156T>C	NCBI36
NG_007457.1:g.10023T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.230T>C
ENST00000281043.4:c.881T>C MANE Select	ENSP00000281043.3:p.Val294Ala
ENST00000638417.1:c.248T>C	ENSP00000491476.1:p.Val83Ala
ENST00000281043.3:c.881T>C	ENSP00000281043.3:p.Val294Ala
NM_001293228.1:c.881T>C	NP_001280157.1:p.Val294Ala
NM_001293231.1:c.248T>C	NP_001280160.1:p.Val83Ala
NM_001293233.1:c.*816T>C	NP_001280162.1:n.*816T>C
NM_005378.5:c.881T>C	NP_005369.2:p.Val294Ala
NM_005378.6:c.881T>C MANE Select	NP_005369.2:p.Val294Ala
NM_001293228.2:c.881T>C	NP_001280157.1:p.Val294Ala
NM_001293231.2:c.248T>C	NP_001280160.1:p.Val83Ala
NM_001293233.2:c.*816T>C	NP_001280162.1:n.*816T>C