Canonical Allele Identifier: CA425092561
Gene: MYCN HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.16085814C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945692C>T , CM000664.2:g.15945692C>T GRCh38
NC_000002.11:g.16085814C>T , CM000664.1:g.16085814C>T GRCh37
NC_000002.10:g.16003265C>T NCBI36
NG_007457.1:g.10132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.339C>T
ENST00000281043.4:c.990C>T MANE Select ENSP00000281043.3:p.His330=
ENST00000638417.1:c.357C>T ENSP00000491476.1:p.His119=
ENST00000281043.3:c.990C>T ENSP00000281043.3:p.His330=
NM_001293228.1:c.990C>T NP_001280157.1:p.His330=
NM_001293231.1:c.357C>T NP_001280160.1:p.His119=
NM_001293233.1:c.*925C>T NP_001280162.1:n.*925C>T
NM_005378.5:c.990C>T NP_005369.2:p.His330=
NM_005378.6:c.990C>T MANE Select NP_005369.2:p.His330=
NM_001293228.2:c.990C>T NP_001280157.1:p.His330=
NM_001293231.2:c.357C>T NP_001280160.1:p.His119=
NM_001293233.2:c.*925C>T NP_001280162.1:n.*925C>T