Canonical Allele Identifier: CA345931980

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945670-G-A
• MyVariant Identifiers: chr2:g.16085792G>A (hg19) ; chr2:g.15945670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945670G>A , CM000664.2:g.15945670G>A	GRCh38
NC_000002.11:g.16085792G>A , CM000664.1:g.16085792G>A	GRCh37
NC_000002.10:g.16003243G>A	NCBI36
NG_007457.1:g.10110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.317G>A
ENST00000281043.4:c.968G>A MANE Select	ENSP00000281043.3:p.Cys323Tyr
ENST00000638417.1:c.335G>A	ENSP00000491476.1:p.Cys112Tyr
ENST00000281043.3:c.968G>A	ENSP00000281043.3:p.Cys323Tyr
NM_001293228.1:c.968G>A	NP_001280157.1:p.Cys323Tyr
NM_001293231.1:c.335G>A	NP_001280160.1:p.Cys112Tyr
NM_001293233.1:c.*903G>A	NP_001280162.1:n.*903G>A
NM_005378.5:c.968G>A	NP_005369.2:p.Cys323Tyr
NM_005378.6:c.968G>A MANE Select	NP_005369.2:p.Cys323Tyr
NM_001293228.2:c.968G>A	NP_001280157.1:p.Cys323Tyr
NM_001293231.2:c.335G>A	NP_001280160.1:p.Cys112Tyr
NM_001293233.2:c.*903G>A	NP_001280162.1:n.*903G>A