Canonical Allele Identifier: CA425092685

Gene: MYCN

Linked Data

• gnomAD v4: 2-15945914-C-T
• MyVariant Identifiers: chr2:g.16086036C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945914C>T , CM000664.2:g.15945914C>T	GRCh38
NC_000002.11:g.16086036C>T , CM000664.1:g.16086036C>T	GRCh37
NC_000002.10:g.16003487C>T	NCBI36
NG_007457.1:g.10354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.561C>T
ENST00000281043.4:c.1212C>T MANE Select	ENSP00000281043.3:p.Leu404=
ENST00000638417.1:c.579C>T	ENSP00000491476.1:p.Leu193=
ENST00000281043.3:c.1212C>T	ENSP00000281043.3:p.Leu404=
NM_001293228.1:c.1212C>T	NP_001280157.1:p.Leu404=
NM_001293231.1:c.579C>T	NP_001280160.1:p.Leu193=
NM_001293233.1:c.*1147C>T	NP_001280162.1:n.*1147C>T
NM_005378.5:c.1212C>T	NP_005369.2:p.Leu404=
NM_005378.6:c.1212C>T MANE Select	NP_005369.2:p.Leu404=
NM_001293228.2:c.1212C>T	NP_001280157.1:p.Leu404=
NM_001293231.2:c.579C>T	NP_001280160.1:p.Leu193=
NM_001293233.2:c.*1147C>T	NP_001280162.1:n.*1147C>T