Canonical Allele Identifier: CA531217888

Gene: MYCN

Linked Data

• dbSNP Id: rs1222267620
• gnomAD v2: 2-16085631-AGAG-A
• MyVariant Identifiers: chr2:g.16085632_16085634del (hg19) ; chr2:g.15945510_15945512del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945512_15945514del , CM000664.2:g.15945512_15945514del	GRCh38
NC_000002.11:g.16085634_16085636del , CM000664.1:g.16085634_16085636del	GRCh37
NC_000002.10:g.16003085_16003087del	NCBI36
NG_007457.1:g.9952_9954del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.159_161del
ENST00000281043.4:c.810_812del MANE Select	ENSP00000281043.3:p.Glu271del
ENST00000638417.1:c.177_179del	ENSP00000491476.1:p.Glu60del
ENST00000281043.3:c.810_812del	ENSP00000281043.3:p.Glu271del
NM_001293228.1:c.810_812del	NP_001280157.1:p.Glu271del
NM_001293231.1:c.177_179del	NP_001280160.1:p.Glu60del
NM_001293233.1:c.*745_*747del	NP_001280162.1:n.*745_*747del
NM_005378.5:c.810_812del	NP_005369.2:p.Glu271del
NM_005378.6:c.810_812del MANE Select	NP_005369.2:p.Glu271del
NM_001293228.2:c.810_812del	NP_001280157.1:p.Glu271del
NM_001293231.2:c.177_179del	NP_001280160.1:p.Glu60del
NM_001293233.2:c.*745_*747del	NP_001280162.1:n.*745_*747del