Canonical Allele Identifier: CA345932452

Gene: MYCN

Linked Data

• ClinVar Variation Id: 433153
• ClinVar RCV Id: RCV000497480
• dbSNP Id: rs104893648
• MyVariant Identifiers: chr2:g.16086005G>T (hg19) ; chr2:g.15945883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945883G>T , CM000664.2:g.15945883G>T	GRCh38
NC_000002.11:g.16086005G>T , CM000664.1:g.16086005G>T	GRCh37
NC_000002.10:g.16003456G>T	NCBI36
NG_007457.1:g.10323G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.530G>T
ENST00000281043.4:c.1181G>T MANE Select	ENSP00000281043.3:p.Arg394Leu
ENST00000638417.1:c.548G>T	ENSP00000491476.1:p.Arg183Leu
ENST00000281043.3:c.1181G>T	ENSP00000281043.3:p.Arg394Leu
NM_001293228.1:c.1181G>T	NP_001280157.1:p.Arg394Leu
NM_001293231.1:c.548G>T	NP_001280160.1:p.Arg183Leu
NM_001293233.1:c.*1116G>T	NP_001280162.1:n.*1116G>T
NM_005378.5:c.1181G>T	NP_005369.2:p.Arg394Leu
NM_005378.6:c.1181G>T MANE Select	NP_005369.2:p.Arg394Leu
NM_001293228.2:c.1181G>T	NP_001280157.1:p.Arg394Leu
NM_001293231.2:c.548G>T	NP_001280160.1:p.Arg183Leu
NM_001293233.2:c.*1116G>T	NP_001280162.1:n.*1116G>T