Canonical Allele Identifier: CA345931971

Gene: MYCN

Linked Data

• dbSNP Id: rs774985441
• gnomAD v2: 2-16085786-A-T
• gnomAD v4: 2-15945664-A-T
• MyVariant Identifiers: chr2:g.16085786A>T (hg19) ; chr2:g.15945664A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945664A>T , CM000664.2:g.15945664A>T	GRCh38
NC_000002.11:g.16085786A>T , CM000664.1:g.16085786A>T	GRCh37
NC_000002.10:g.16003237A>T	NCBI36
NG_007457.1:g.10104A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.311A>T
ENST00000281043.4:c.962A>T MANE Select	ENSP00000281043.3:p.Lys321Ile
ENST00000638417.1:c.329A>T	ENSP00000491476.1:p.Lys110Ile
ENST00000281043.3:c.962A>T	ENSP00000281043.3:p.Lys321Ile
NM_001293228.1:c.962A>T	NP_001280157.1:p.Lys321Ile
NM_001293231.1:c.329A>T	NP_001280160.1:p.Lys110Ile
NM_001293233.1:c.*897A>T	NP_001280162.1:n.*897A>T
NM_005378.5:c.962A>T	NP_005369.2:p.Lys321Ile
NM_005378.6:c.962A>T MANE Select	NP_005369.2:p.Lys321Ile
NM_001293228.2:c.962A>T	NP_001280157.1:p.Lys321Ile
NM_001293231.2:c.329A>T	NP_001280160.1:p.Lys110Ile
NM_001293233.2:c.*897A>T	NP_001280162.1:n.*897A>T