Canonical Allele Identifier: CA658795680

Gene: MYCN

Linked Data

• ClinVar Variation Id: 503629
• ClinVar RCV Id: RCV000599128
• dbSNP Id: rs1553370992
• MyVariant Identifiers: chr2:g.16085993_16086002del (hg19) ; chr2:g.15945871_15945880del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.15945871_15945880del , CM000664.2:g.15945871_15945880del	GRCh38
NC_000002.11:g.16085993_16086002del , CM000664.1:g.16085993_16086002del	GRCh37
NC_000002.10:g.16003444_16003453del	NCBI36
NG_007457.1:g.10311_10320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000703162.1:n.518_527del
ENST00000281043.4:c.1169_1178del MANE Select	ENSP00000281043.3:p.Glu390AlafsTer20
ENST00000638417.1:c.536_545del	ENSP00000491476.1:p.Glu179AlafsTer20
ENST00000281043.3:c.1169_1178del	ENSP00000281043.3:p.Glu390AlafsTer20
NM_001293228.1:c.1169_1178del	NP_001280157.1:p.Glu390AlafsTer20
NM_001293231.1:c.536_545del	NP_001280160.1:p.Glu179AlafsTer20
NM_001293233.1:c.*1104_*1113del	NP_001280162.1:n.*1104_*1113del
NM_005378.5:c.1169_1178del	NP_005369.2:p.Glu390AlafsTer20
NM_005378.6:c.1169_1178del MANE Select	NP_005369.2:p.Glu390AlafsTer20
NM_001293228.2:c.1169_1178del	NP_001280157.1:p.Glu390AlafsTer20
NM_001293231.2:c.536_545del	NP_001280160.1:p.Glu179AlafsTer20
NM_001293233.2:c.*1104_*1113del	NP_001280162.1:n.*1104_*1113del