Canonical Allele Identifier: CA1538254

Gene: MYCN

Linked Data

• dbSNP Id: rs760345354
• ExAC: 2:16085646 GGAA / G
• gnomAD v2: 2-16085646-GGAA-G
• gnomAD v4: 2-15945524-GGAA-G
• MyVariant Identifiers: chr2:g.16085647_16085649del (hg19) ; chr2:g.15945525_15945527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945528_15945530del , CM000664.2:g.15945528_15945530del	GRCh38
NC_000002.11:g.16085650_16085652del , CM000664.1:g.16085650_16085652del	GRCh37
NC_000002.10:g.16003101_16003103del	NCBI36
NG_007457.1:g.9968_9970del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.175_177del
ENST00000281043.4:c.826_828del MANE Select	ENSP00000281043.3:p.Glu276del
ENST00000638417.1:c.193_195del	ENSP00000491476.1:p.Glu65del
ENST00000281043.3:c.826_828del	ENSP00000281043.3:p.Glu276del
NM_001293228.1:c.826_828del	NP_001280157.1:p.Glu276del
NM_001293231.1:c.193_195del	NP_001280160.1:p.Glu65del
NM_001293233.1:c.*761_*763del	NP_001280162.1:n.*761_*763del
NM_005378.5:c.826_828del	NP_005369.2:p.Glu276del
NM_005378.6:c.826_828del MANE Select	NP_005369.2:p.Glu276del
NM_001293228.2:c.826_828del	NP_001280157.1:p.Glu276del
NM_001293231.2:c.193_195del	NP_001280160.1:p.Glu65del
NM_001293233.2:c.*761_*763del	NP_001280162.1:n.*761_*763del