Canonical Allele Identifier: CA10603869

Gene: MYCN

Linked Data

• ClinVar Variation Id: 281398
• ClinVar RCV Id: RCV000395178
• dbSNP Id: rs886042150
• MyVariant Identifiers: chr2:g.16085641G>T (hg19) ; chr2:g.15945519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945519G>T , CM000664.2:g.15945519G>T	GRCh38
NC_000002.11:g.16085641G>T , CM000664.1:g.16085641G>T	GRCh37
NC_000002.10:g.16003092G>T	NCBI36
NG_007457.1:g.9959G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.166G>T
ENST00000281043.4:c.817G>T MANE Select	ENSP00000281043.3:p.Glu273Ter
ENST00000638417.1:c.184G>T	ENSP00000491476.1:p.Glu62Ter
ENST00000281043.3:c.817G>T	ENSP00000281043.3:p.Glu273Ter
NM_001293228.1:c.817G>T	NP_001280157.1:p.Glu273Ter
NM_001293231.1:c.184G>T	NP_001280160.1:p.Glu62Ter
NM_001293233.1:c.*752G>T	NP_001280162.1:n.*752G>T
NM_005378.5:c.817G>T	NP_005369.2:p.Glu273Ter
NM_005378.6:c.817G>T MANE Select	NP_005369.2:p.Glu273Ter
NM_001293228.2:c.817G>T	NP_001280157.1:p.Glu273Ter
NM_001293231.2:c.184G>T	NP_001280160.1:p.Glu62Ter
NM_001293233.2:c.*752G>T	NP_001280162.1:n.*752G>T