Canonical Allele Identifier: CA1538297

Gene: MYCN

Linked Data

• ClinVar Variation Id: 2808432
• ClinVar RCV Id: RCV003684849
• dbSNP Id: rs372079635
• ExAC: 2:16085839 G / T
• gnomAD v2: 2-16085839-G-T
• gnomAD v3: 2-15945717-G-T
• gnomAD v4: 2-15945717-G-T
• MyVariant Identifiers: chr2:g.16085839G>T (hg19) ; chr2:g.15945717G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945717G>T , CM000664.2:g.15945717G>T	GRCh38
NC_000002.11:g.16085839G>T , CM000664.1:g.16085839G>T	GRCh37
NC_000002.10:g.16003290G>T	NCBI36
NG_007457.1:g.10157G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.364G>T
ENST00000281043.4:c.1015G>T MANE Select	ENSP00000281043.3:p.Val339Leu
ENST00000638417.1:c.382G>T	ENSP00000491476.1:p.Val128Leu
ENST00000281043.3:c.1015G>T	ENSP00000281043.3:p.Val339Leu
NM_001293228.1:c.1015G>T	NP_001280157.1:p.Val339Leu
NM_001293231.1:c.382G>T	NP_001280160.1:p.Val128Leu
NM_001293233.1:c.*950G>T	NP_001280162.1:n.*950G>T
NM_005378.5:c.1015G>T	NP_005369.2:p.Val339Leu
NM_005378.6:c.1015G>T MANE Select	NP_005369.2:p.Val339Leu
NM_001293228.2:c.1015G>T	NP_001280157.1:p.Val339Leu
NM_001293231.2:c.382G>T	NP_001280160.1:p.Val128Leu
NM_001293233.2:c.*950G>T	NP_001280162.1:n.*950G>T