Canonical Allele Identifier: CA1538246

Gene: MYCN

Linked Data

• dbSNP Id: rs770817606
• ExAC: 2:16085622 AGAT / A
• gnomAD v2: 2-16085622-AGAT-A
• gnomAD v3: 2-15945500-AGAT-A
• gnomAD v4: 2-15945500-AGAT-A
• MyVariant Identifiers: chr2:g.16085623_16085625del (hg19) ; chr2:g.15945501_15945503del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945506_15945508del , CM000664.2:g.15945506_15945508del	GRCh38
NC_000002.11:g.16085628_16085630del , CM000664.1:g.16085628_16085630del	GRCh37
NC_000002.10:g.16003079_16003081del	NCBI36
NG_007457.1:g.9946_9948del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.153_155del
ENST00000281043.4:c.804_806del MANE Select	ENSP00000281043.3:p.Asp268del
ENST00000638417.1:c.171_173del	ENSP00000491476.1:p.Asp57del
ENST00000281043.3:c.804_806del	ENSP00000281043.3:p.Asp268del
NM_001293228.1:c.804_806del	NP_001280157.1:p.Asp268del
NM_001293231.1:c.171_173del	NP_001280160.1:p.Asp57del
NM_001293233.1:c.*739_*741del	NP_001280162.1:n.*739_*741del
NM_005378.5:c.804_806del	NP_005369.2:p.Asp268del
NM_005378.6:c.804_806del MANE Select	NP_005369.2:p.Asp268del
NM_001293228.2:c.804_806del	NP_001280157.1:p.Asp268del
NM_001293231.2:c.171_173del	NP_001280160.1:p.Asp57del
NM_001293233.2:c.*739_*741del	NP_001280162.1:n.*739_*741del