Canonical Allele Identifier: CA645372361

Gene: MYCN

Linked Data

• ClinVar Variation Id: 433154
• ClinVar RCV Id: RCV000497984
• dbSNP Id: rs1553370918
• MyVariant Identifiers: chr2:g.16085726_16085727del (hg19) ; chr2:g.15945604_15945605del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945604_15945605del , CM000664.2:g.15945604_15945605del	GRCh38
NC_000002.11:g.16085726_16085727del , CM000664.1:g.16085726_16085727del	GRCh37
NC_000002.10:g.16003177_16003178del	NCBI36
NG_007457.1:g.10044_10045del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.251_252del
ENST00000281043.4:c.902_903del MANE Select	ENSP00000281043.3:p.Val301AlafsTer?
ENST00000638417.1:c.269_270del	ENSP00000491476.1:p.Val90AlafsTer?
ENST00000281043.3:c.902_903del	ENSP00000281043.3:p.Val301AlafsTer?
NM_001293228.1:c.902_903del	NP_001280157.1:p.Val301AlafsTer?
NM_001293231.1:c.269_270del	NP_001280160.1:p.Val90AlafsTer?
NM_001293233.1:c.*837_*838del	NP_001280162.1:n.*837_*838del
NM_005378.5:c.902_903del	NP_005369.2:p.Val301AlafsTer?
NM_005378.6:c.902_903del MANE Select	NP_005369.2:p.Val301AlafsTer?
NM_001293228.2:c.902_903del	NP_001280157.1:p.Val301AlafsTer?
NM_001293231.2:c.269_270del	NP_001280160.1:p.Val90AlafsTer?
NM_001293233.2:c.*837_*838del	NP_001280162.1:n.*837_*838del