Canonical Allele Identifier: CA425057128

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945602-T-G
• MyVariant Identifiers: chr2:g.16085724T>G (hg19)

Genomic Alleles

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

Transcript Alleles

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