Canonical Allele Identifier: CA425057028
Gene: MYCN HGNC NCBI

Linked Data

dbSNP Id: rs2103330473
MyVariant Identifiers: chr2:g.16085682T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945560T>G , CM000664.2:g.15945560T>G GRCh38
NC_000002.11:g.16085682T>G , CM000664.1:g.16085682T>G GRCh37
NC_000002.10:g.16003133T>G NCBI36
NG_007457.1:g.10000T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.207T>G
ENST00000281043.4:c.858T>G MANE Select ENSP00000281043.3:p.Arg286=
ENST00000638417.1:c.225T>G ENSP00000491476.1:p.Arg75=
ENST00000281043.3:c.858T>G ENSP00000281043.3:p.Arg286=
NM_001293228.1:c.858T>G NP_001280157.1:p.Arg286=
NM_001293231.1:c.225T>G NP_001280160.1:p.Arg75=
NM_001293233.1:c.*793T>G NP_001280162.1:n.*793T>G
NM_005378.5:c.858T>G NP_005369.2:p.Arg286=
NM_005378.6:c.858T>G MANE Select NP_005369.2:p.Arg286=
NM_001293228.2:c.858T>G NP_001280157.1:p.Arg286=
NM_001293231.2:c.225T>G NP_001280160.1:p.Arg75=
NM_001293233.2:c.*793T>G NP_001280162.1:n.*793T>G