Canonical Allele Identifier: CA531217876

Gene: MYCN

Linked Data

• ClinVar Variation Id: 1902646
• ClinVar RCV Id: RCV002583083
• dbSNP Id: rs1213977398
• gnomAD v2: 2-16085601-C-G
• gnomAD v3: 2-15945479-C-G
• gnomAD v4: 2-15945479-C-G
• MyVariant Identifiers: chr2:g.16085601C>G (hg19) ; chr2:g.15945479C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945479C>G , CM000664.2:g.15945479C>G	GRCh38
NC_000002.11:g.16085601C>G , CM000664.1:g.16085601C>G	GRCh37
NC_000002.10:g.16003052C>G	NCBI36
NG_007457.1:g.9919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.140-14C>G
ENST00000281043.4:c.791-14C>G MANE Select	ENSP00000281043.3:n.791-14C>G
ENST00000638417.1:c.158-14C>G	ENSP00000491476.1:n.158-14C>G
ENST00000281043.3:c.791-14C>G	ENSP00000281043.3:n.791-14C>G
NM_001293228.1:c.791-14C>G	NP_001280157.1:n.791-14C>G
NM_001293231.1:c.158-14C>G	NP_001280160.1:n.158-14C>G
NM_001293233.1:c.*726-14C>G	NP_001280162.1:n.*726-14C>G
NM_005378.5:c.791-14C>G	NP_005369.2:n.791-14C>G
NM_005378.6:c.791-14C>G MANE Select	NP_005369.2:n.791-14C>G
NM_001293228.2:c.791-14C>G	NP_001280157.1:n.791-14C>G
NM_001293231.2:c.158-14C>G	NP_001280160.1:n.158-14C>G
NM_001293233.2:c.*726-14C>G	NP_001280162.1:n.*726-14C>G