Canonical Allele Identifier: CA16040252

Gene: MYCN

Linked Data

• ClinVar Variation Id: 1955185
• ClinVar RCV Id: RCV002715221
• dbSNP Id: rs1414932356
• gnomAD v2: 2-16085723-C-T
• gnomAD v3: 2-15945601-C-T
• gnomAD v4: 2-15945601-C-T
• MyVariant Identifiers: chr2:g.16085723C>T (hg19) ; chr2:g.15945601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945601C>T , CM000664.2:g.15945601C>T	GRCh38
NC_000002.11:g.16085723C>T , CM000664.1:g.16085723C>T	GRCh37
NC_000002.10:g.16003174C>T	NCBI36
NG_007457.1:g.10041C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.248C>T
ENST00000281043.4:c.899C>T MANE Select	ENSP00000281043.3:p.Thr300Ile
ENST00000638417.1:c.266C>T	ENSP00000491476.1:p.Thr89Ile
ENST00000281043.3:c.899C>T	ENSP00000281043.3:p.Thr300Ile
NM_001293228.1:c.899C>T	NP_001280157.1:p.Thr300Ile
NM_001293231.1:c.266C>T	NP_001280160.1:p.Thr89Ile
NM_001293233.1:c.*834C>T	NP_001280162.1:n.*834C>T
NM_005378.5:c.899C>T	NP_005369.2:p.Thr300Ile
NM_005378.6:c.899C>T MANE Select	NP_005369.2:p.Thr300Ile
NM_001293228.2:c.899C>T	NP_001280157.1:p.Thr300Ile
NM_001293231.2:c.266C>T	NP_001280160.1:p.Thr89Ile
NM_001293233.2:c.*834C>T	NP_001280162.1:n.*834C>T