Canonical Allele Identifier: CA645372524

Gene: MYCN MYCNOS

Linked Data

• ClinVar Variation Id: 433150
• ClinVar RCV Id: RCV000497372
• dbSNP Id: rs1553370260
• MyVariant Identifiers: chr2:g.16082254_16082257dup (hg19) ; chr2:g.15942132_15942135dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15942132_15942135dup , CM000664.2:g.15942132_15942135dup	GRCh38
NC_000002.11:g.16082254_16082257dup , CM000664.1:g.16082254_16082257dup	GRCh37
NC_000002.10:g.15999705_15999708dup	NCBI36
NG_007457.1:g.6572_6575dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281043.4:c.68_71dup (MYCN) MANE Select	ENSP00000281043.3:p.Gln25AlafsTer11
ENST00000638417.1:c.157+1389_157+1392dup (MYCN)	ENSP00000491476.1:n.157+1389_157+1392dup
ENST00000281043.3:c.68_71dup (MYCN)	ENSP00000281043.3:p.Gln25AlafsTer11
NM_001293228.1:c.68_71dup (MYCN)	NP_001280157.1:p.Gln25AlafsTer11
NM_001293231.1:c.157+1389_157+1392dup (MYCN)	NP_001280160.1:n.157+1389_157+1392dup
NM_001293233.1:c.*3_*6dup (MYCN)	NP_001280162.1:n.*3_*6dup
NM_005378.5:c.68_71dup (MYCN)	NP_005369.2:p.Gln25AlafsTer11
NM_001329968.1:c.-234+19_-234+22dup (MYCNOS)	NP_001316897.1:n.-234+19_-234+22dup
XM_024452528.1:c.-234+249_-234+252dup (MYCNOS)	XP_024308296.1:n.-234+249_-234+252dup
NM_005378.6:c.68_71dup (MYCN) MANE Select	NP_005369.2:p.Gln25AlafsTer11
NM_001293228.2:c.68_71dup (MYCN)	NP_001280157.1:p.Gln25AlafsTer11
NM_001293231.2:c.157+1389_157+1392dup (MYCN)	NP_001280160.1:n.157+1389_157+1392dup
NM_001293233.2:c.*3_*6dup (MYCN)	NP_001280162.1:n.*3_*6dup
NR_161163.1:n.282+19_282+22dup (MYCNOS)