Canonical Allele Identifier: CA1538286

Gene: MYCN

Linked Data

• dbSNP Id: rs771271810
• ExAC: 2:16085773 G / C
• gnomAD v2: 2-16085773-G-C
• gnomAD v3: 2-15945651-G-C
• gnomAD v4: 2-15945651-G-C
• MyVariant Identifiers: chr2:g.16085773G>C (hg19) ; chr2:g.15945651G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945651G>C , CM000664.2:g.15945651G>C	GRCh38
NC_000002.11:g.16085773G>C , CM000664.1:g.16085773G>C	GRCh37
NC_000002.10:g.16003224G>C	NCBI36
NG_007457.1:g.10091G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.298G>C
ENST00000281043.4:c.949G>C MANE Select	ENSP00000281043.3:p.Glu317Gln
ENST00000638417.1:c.316G>C	ENSP00000491476.1:p.Glu106Gln
ENST00000281043.3:c.949G>C	ENSP00000281043.3:p.Glu317Gln
NM_001293228.1:c.949G>C	NP_001280157.1:p.Glu317Gln
NM_001293231.1:c.316G>C	NP_001280160.1:p.Glu106Gln
NM_001293233.1:c.*884G>C	NP_001280162.1:n.*884G>C
NM_005378.5:c.949G>C	NP_005369.2:p.Glu317Gln
NM_005378.6:c.949G>C MANE Select	NP_005369.2:p.Glu317Gln
NM_001293228.2:c.949G>C	NP_001280157.1:p.Glu317Gln
NM_001293231.2:c.316G>C	NP_001280160.1:p.Glu106Gln
NM_001293233.2:c.*884G>C	NP_001280162.1:n.*884G>C