Canonical Allele Identifier: CA345932468

Gene: MYCN

Linked Data

• dbSNP Id: rs1199581745
• gnomAD v2: 2-16086013-C-A
• MyVariant Identifiers: chr2:g.16086013C>A (hg19) ; chr2:g.15945891C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945891C>A , CM000664.2:g.15945891C>A	GRCh38
NC_000002.11:g.16086013C>A , CM000664.1:g.16086013C>A	GRCh37
NC_000002.10:g.16003464C>A	NCBI36
NG_007457.1:g.10331C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.538C>A
ENST00000281043.4:c.1189C>A MANE Select	ENSP00000281043.3:p.Leu397Ile
ENST00000638417.1:c.556C>A	ENSP00000491476.1:p.Leu186Ile
ENST00000281043.3:c.1189C>A	ENSP00000281043.3:p.Leu397Ile
NM_001293228.1:c.1189C>A	NP_001280157.1:p.Leu397Ile
NM_001293231.1:c.556C>A	NP_001280160.1:p.Leu186Ile
NM_001293233.1:c.*1124C>A	NP_001280162.1:n.*1124C>A
NM_005378.5:c.1189C>A	NP_005369.2:p.Leu397Ile
NM_005378.6:c.1189C>A MANE Select	NP_005369.2:p.Leu397Ile
NM_001293228.2:c.1189C>A	NP_001280157.1:p.Leu397Ile
NM_001293231.2:c.556C>A	NP_001280160.1:p.Leu186Ile
NM_001293233.2:c.*1124C>A	NP_001280162.1:n.*1124C>A