Canonical Allele Identifier: CA1538253

Gene: MYCN

Linked Data

• dbSNP Id: rs760345354
• ExAC: 2:16085646 G / GGAA
• gnomAD v2: 2-16085646-G-GGAA
• gnomAD v3: 2-15945524-G-GGAA
• gnomAD v4: 2-15945524-G-GGAA
• MyVariant Identifiers: chr2:g.16085649_16085650insGAA (hg19) ; chr2:g.16085646_16085647insGAA (hg19) ; chr2:g.15945527_15945528insGAA (hg38) ; chr2:g.15945524_15945525insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945528_15945530dup , CM000664.2:g.15945528_15945530dup	GRCh38
NC_000002.11:g.16085650_16085652dup , CM000664.1:g.16085650_16085652dup	GRCh37
NC_000002.10:g.16003101_16003103dup	NCBI36
NG_007457.1:g.9968_9970dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.175_177dup
ENST00000281043.4:c.826_828dup MANE Select	ENSP00000281043.3:p.Glu276_Ile277insGlu
ENST00000638417.1:c.193_195dup	ENSP00000491476.1:p.Glu65_Ile66insGlu
ENST00000281043.3:c.826_828dup	ENSP00000281043.3:p.Glu276_Ile277insGlu
NM_001293228.1:c.826_828dup	NP_001280157.1:p.Glu276_Ile277insGlu
NM_001293231.1:c.193_195dup	NP_001280160.1:p.Glu65_Ile66insGlu
NM_001293233.1:c.*761_*763dup	NP_001280162.1:n.*761_*763dup
NM_005378.5:c.826_828dup	NP_005369.2:p.Glu276_Ile277insGlu
NM_005378.6:c.826_828dup MANE Select	NP_005369.2:p.Glu276_Ile277insGlu
NM_001293228.2:c.826_828dup	NP_001280157.1:p.Glu276_Ile277insGlu
NM_001293231.2:c.193_195dup	NP_001280160.1:p.Glu65_Ile66insGlu
NM_001293233.2:c.*761_*763dup	NP_001280162.1:n.*761_*763dup