Canonical Allele Identifier: CA345931806

Gene: MYCN

Linked Data

• dbSNP Id: rs1197202335
• gnomAD v3: 2-15945580-C-T
• gnomAD v4: 2-15945580-C-T
• MyVariant Identifiers: chr2:g.16085702C>T (hg19) ; chr2:g.15945580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945580C>T , CM000664.2:g.15945580C>T	GRCh38
NC_000002.11:g.16085702C>T , CM000664.1:g.16085702C>T	GRCh37
NC_000002.10:g.16003153C>T	NCBI36
NG_007457.1:g.10020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.227C>T
ENST00000281043.4:c.878C>T MANE Select	ENSP00000281043.3:p.Ala293Val
ENST00000638417.1:c.245C>T	ENSP00000491476.1:p.Ala82Val
ENST00000281043.3:c.878C>T	ENSP00000281043.3:p.Ala293Val
NM_001293228.1:c.878C>T	NP_001280157.1:p.Ala293Val
NM_001293231.1:c.245C>T	NP_001280160.1:p.Ala82Val
NM_001293233.1:c.*813C>T	NP_001280162.1:n.*813C>T
NM_005378.5:c.878C>T	NP_005369.2:p.Ala293Val
NM_005378.6:c.878C>T MANE Select	NP_005369.2:p.Ala293Val
NM_001293228.2:c.878C>T	NP_001280157.1:p.Ala293Val
NM_001293231.2:c.245C>T	NP_001280160.1:p.Ala82Val
NM_001293233.2:c.*813C>T	NP_001280162.1:n.*813C>T