Canonical Allele Identifier: CA345931893

Gene: MYCN

Linked Data

• dbSNP Id: rs1246081024
• gnomAD v3: 2-15945625-T-G
• gnomAD v4: 2-15945625-T-G
• MyVariant Identifiers: chr2:g.16085747T>G (hg19) ; chr2:g.15945625T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945625T>G , CM000664.2:g.15945625T>G	GRCh38
NC_000002.11:g.16085747T>G , CM000664.1:g.16085747T>G	GRCh37
NC_000002.10:g.16003198T>G	NCBI36
NG_007457.1:g.10065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.272T>G
ENST00000281043.4:c.923T>G MANE Select	ENSP00000281043.3:p.Leu308Arg
ENST00000638417.1:c.290T>G	ENSP00000491476.1:p.Leu97Arg
ENST00000281043.3:c.923T>G	ENSP00000281043.3:p.Leu308Arg
NM_001293228.1:c.923T>G	NP_001280157.1:p.Leu308Arg
NM_001293231.1:c.290T>G	NP_001280160.1:p.Leu97Arg
NM_001293233.1:c.*858T>G	NP_001280162.1:n.*858T>G
NM_005378.5:c.923T>G	NP_005369.2:p.Leu308Arg
NM_005378.6:c.923T>G MANE Select	NP_005369.2:p.Leu308Arg
NM_001293228.2:c.923T>G	NP_001280157.1:p.Leu308Arg
NM_001293231.2:c.290T>G	NP_001280160.1:p.Leu97Arg
NM_001293233.2:c.*858T>G	NP_001280162.1:n.*858T>G