Canonical Allele Identifier: CA345931692

Gene: MYCN

Linked Data

• dbSNP Id: rs1441199863
• gnomAD v2: 2-16085648-A-T
• MyVariant Identifiers: chr2:g.16085648A>T (hg19) ; chr2:g.15945526A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945526A>T , CM000664.2:g.15945526A>T	GRCh38
NC_000002.11:g.16085648A>T , CM000664.1:g.16085648A>T	GRCh37
NC_000002.10:g.16003099A>T	NCBI36
NG_007457.1:g.9966A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.173A>T
ENST00000281043.4:c.824A>T MANE Select	ENSP00000281043.3:p.Glu275Val
ENST00000638417.1:c.191A>T	ENSP00000491476.1:p.Glu64Val
ENST00000281043.3:c.824A>T	ENSP00000281043.3:p.Glu275Val
NM_001293228.1:c.824A>T	NP_001280157.1:p.Glu275Val
NM_001293231.1:c.191A>T	NP_001280160.1:p.Glu64Val
NM_001293233.1:c.*759A>T	NP_001280162.1:n.*759A>T
NM_005378.5:c.824A>T	NP_005369.2:p.Glu275Val
NM_005378.6:c.824A>T MANE Select	NP_005369.2:p.Glu275Val
NM_001293228.2:c.824A>T	NP_001280157.1:p.Glu275Val
NM_001293231.2:c.191A>T	NP_001280160.1:p.Glu64Val
NM_001293233.2:c.*759A>T	NP_001280162.1:n.*759A>T