Canonical Allele Identifier: CA345932549

Gene: MYCN

Linked Data

• ClinVar Variation Id: 523483
• ClinVar RCV Id: RCV000626880 ; RCV001662671
• dbSNP Id: rs1553371013
• MyVariant Identifiers: chr2:g.16086050C>T (hg19) ; chr2:g.15945928C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945928C>T , CM000664.2:g.15945928C>T	GRCh38
NC_000002.11:g.16086050C>T , CM000664.1:g.16086050C>T	GRCh37
NC_000002.10:g.16003501C>T	NCBI36
NG_007457.1:g.10368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703162.1:n.575C>T
ENST00000281043.4:c.1226C>T MANE Select	ENSP00000281043.3:p.Pro409Leu
ENST00000638417.1:c.593C>T	ENSP00000491476.1:p.Pro198Leu
ENST00000281043.3:c.1226C>T	ENSP00000281043.3:p.Pro409Leu
NM_001293228.1:c.1226C>T	NP_001280157.1:p.Pro409Leu
NM_001293231.1:c.593C>T	NP_001280160.1:p.Pro198Leu
NM_001293233.1:c.*1161C>T	NP_001280162.1:n.*1161C>T
NM_005378.5:c.1226C>T	NP_005369.2:p.Pro409Leu
NM_005378.6:c.1226C>T MANE Select	NP_005369.2:p.Pro409Leu
NM_001293228.2:c.1226C>T	NP_001280157.1:p.Pro409Leu
NM_001293231.2:c.593C>T	NP_001280160.1:p.Pro198Leu
NM_001293233.2:c.*1161C>T	NP_001280162.1:n.*1161C>T