Canonical Allele Identifier: CA345932142

Gene: MYCN

Linked Data

• dbSNP Id: rs1558536206
• gnomAD v3: 2-15945742-A-C
• gnomAD v4: 2-15945742-A-C
• MyVariant Identifiers: chr2:g.16085864A>C (hg19) ; chr2:g.15945742A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945742A>C , CM000664.2:g.15945742A>C	GRCh38
NC_000002.11:g.16085864A>C , CM000664.1:g.16085864A>C	GRCh37
NC_000002.10:g.16003315A>C	NCBI36
NG_007457.1:g.10182A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.389A>C
ENST00000281043.4:c.1040A>C MANE Select	ENSP00000281043.3:p.Gln347Pro
ENST00000638417.1:c.407A>C	ENSP00000491476.1:p.Gln136Pro
ENST00000281043.3:c.1040A>C	ENSP00000281043.3:p.Gln347Pro
NM_001293228.1:c.1040A>C	NP_001280157.1:p.Gln347Pro
NM_001293231.1:c.407A>C	NP_001280160.1:p.Gln136Pro
NM_001293233.1:c.*975A>C	NP_001280162.1:n.*975A>C
NM_005378.5:c.1040A>C	NP_005369.2:p.Gln347Pro
NM_005378.6:c.1040A>C MANE Select	NP_005369.2:p.Gln347Pro
NM_001293228.2:c.1040A>C	NP_001280157.1:p.Gln347Pro
NM_001293231.2:c.407A>C	NP_001280160.1:p.Gln136Pro
NM_001293233.2:c.*975A>C	NP_001280162.1:n.*975A>C