Canonical Allele Identifier: CA1538290

Gene: MYCN

Linked Data

• dbSNP Id: rs762439508
• ExAC: 2:16085802 C / CCACCAGCAG
• gnomAD v2: 2-16085802-C-CCACCAGCAG
• gnomAD v4: 2-15945680-C-CCACCAGCAG
• MyVariant Identifiers: chr2:g.16085802_16085803insCACCAGCAG (hg19) ; chr2:g.15945680_15945681insCACCAGCAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945684_15945692dup , CM000664.2:g.15945684_15945692dup	GRCh38
NC_000002.11:g.16085806_16085814dup , CM000664.1:g.16085806_16085814dup	GRCh37
NC_000002.10:g.16003257_16003265dup	NCBI36
NG_007457.1:g.10124_10132dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.331_339dup
ENST00000281043.4:c.982_990dup MANE Select	ENSP00000281043.3:p.His330_Asn331insGlnGlnHis
ENST00000638417.1:c.349_357dup	ENSP00000491476.1:p.His119_Asn120insGlnGlnHis
ENST00000281043.3:c.982_990dup	ENSP00000281043.3:p.His330_Asn331insGlnGlnHis
NM_001293228.1:c.982_990dup	NP_001280157.1:p.His330_Asn331insGlnGlnHis
NM_001293231.1:c.349_357dup	NP_001280160.1:p.His119_Asn120insGlnGlnHis
NM_001293233.1:c.*917_*925dup	NP_001280162.1:n.*917_*925dup
NM_005378.5:c.982_990dup	NP_005369.2:p.His330_Asn331insGlnGlnHis
NM_005378.6:c.982_990dup MANE Select	NP_005369.2:p.His330_Asn331insGlnGlnHis
NM_001293228.2:c.982_990dup	NP_001280157.1:p.His330_Asn331insGlnGlnHis
NM_001293231.2:c.349_357dup	NP_001280160.1:p.His119_Asn120insGlnGlnHis
NM_001293233.2:c.*917_*925dup	NP_001280162.1:n.*917_*925dup