Canonical Allele Identifier: CA243354

Gene: MYCN

Linked Data

• ClinVar Variation Id: 196409
• ClinVar RCV Id: RCV000177228 ; RCV002478583
• dbSNP Id: rs794727504
• ExAC: 2:16085612 CAGATGATGA / C
• gnomAD v2: 2-16085612-CAGATGATGA-C
• gnomAD v3: 2-15945490-CAGATGATGA-C
• gnomAD v4: 2-15945490-CAGATGATGA-C
• MyVariant Identifiers: chr2:g.16085625_16085633del (hg19) ; chr2:g.16085613_16085621del (hg19) ; chr2:g.15945503_15945511del (hg38) ; chr2:g.15945491_15945499del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945503_15945511del , CM000664.2:g.15945503_15945511del	GRCh38
NC_000002.11:g.16085625_16085633del , CM000664.1:g.16085625_16085633del	GRCh37
NC_000002.10:g.16003076_16003084del	NCBI36
NG_007457.1:g.9943_9951del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.150_158del
ENST00000281043.4:c.801_809del
ENST00000638417.1:c.168_176del
ENST00000281043.3:c.801_809del
NM_001293228.1:c.801_809del
NM_001293231.1:c.168_176del
NM_001293233.1:c.*736_*744del
NM_005378.5:c.801_809del
NM_005378.6:c.801_809del
NM_001293228.2:c.801_809del
NM_001293231.2:c.168_176del
NM_001293233.2:c.*736_*744del