Canonical Allele Identifier: CA425057126
Gene: MYCN HGNC NCBI

Linked Data

dbSNP Id: rs1662843015
MyVariant Identifiers: chr2:g.16085724T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.15945602T>C , CM000664.2:g.15945602T>C GRCh38
NC_000002.11:g.16085724T>C , CM000664.1:g.16085724T>C GRCh37
NC_000002.10:g.16003175T>C NCBI36
NG_007457.1:g.10042T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000703162.1:n.249T>C
ENST00000281043.4:c.900T>C MANE Select ENSP00000281043.3:p.Thr300=
ENST00000638417.1:c.267T>C ENSP00000491476.1:p.Thr89=
ENST00000281043.3:c.900T>C ENSP00000281043.3:p.Thr300=
NM_001293228.1:c.900T>C NP_001280157.1:p.Thr300=
NM_001293231.1:c.267T>C NP_001280160.1:p.Thr89=
NM_001293233.1:c.*835T>C NP_001280162.1:n.*835T>C
NM_005378.5:c.900T>C NP_005369.2:p.Thr300=
NM_005378.6:c.900T>C MANE Select NP_005369.2:p.Thr300=
NM_001293228.2:c.900T>C NP_001280157.1:p.Thr300=
NM_001293231.2:c.267T>C NP_001280160.1:p.Thr89=
NM_001293233.2:c.*835T>C NP_001280162.1:n.*835T>C