Canonical Allele Identifier: CA345931764

Gene: MYCN

Linked Data

• dbSNP Id: rs2103330483
• MyVariant Identifiers: chr2:g.16085683T>G (hg19) ; chr2:g.15945561T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945561T>G , CM000664.2:g.15945561T>G	GRCh38
NC_000002.11:g.16085683T>G , CM000664.1:g.16085683T>G	GRCh37
NC_000002.10:g.16003134T>G	NCBI36
NG_007457.1:g.10001T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.208T>G
ENST00000281043.4:c.859T>G MANE Select	ENSP00000281043.3:p.Ser287Ala
ENST00000638417.1:c.226T>G	ENSP00000491476.1:p.Ser76Ala
ENST00000281043.3:c.859T>G	ENSP00000281043.3:p.Ser287Ala
NM_001293228.1:c.859T>G	NP_001280157.1:p.Ser287Ala
NM_001293231.1:c.226T>G	NP_001280160.1:p.Ser76Ala
NM_001293233.1:c.*794T>G	NP_001280162.1:n.*794T>G
NM_005378.5:c.859T>G	NP_005369.2:p.Ser287Ala
NM_005378.6:c.859T>G MANE Select	NP_005369.2:p.Ser287Ala
NM_001293228.2:c.859T>G	NP_001280157.1:p.Ser287Ala
NM_001293231.2:c.226T>G	NP_001280160.1:p.Ser76Ala
NM_001293233.2:c.*794T>G	NP_001280162.1:n.*794T>G