Canonical Allele Identifier: CA948848439

Gene: MDM2

Linked Data

• dbSNP Id: rs1880585538
• gnomAD v3: 12-68808718-G-A
• gnomAD v4: 12-68808718-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68808718G>A , CM000674.2:g.68808718G>A	GRCh38
NC_000012.11:g.69202498G>A , CM000674.1:g.69202498G>A	GRCh37
NC_000012.10:g.67488765G>A	NCBI36
NG_016708.1:g.5528G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000258149.11:c.14+227G>A MANE Select	ENSP00000258149.6:n.14+227G>A
ENST00000258149.10:c.14+227G>A	ENSP00000258149.6:n.14+227G>A
ENST00000393417.8:c.14+227G>A	ENSP00000429021.3:n.14+227G>A
ENST00000258148.11:c.14+227G>A	ENSP00000258148.7:n.14+227G>A
ENST00000258149.9:c.14+227G>A	ENSP00000258149.6:n.14+227G>A
ENST00000311420.13:c.14+227G>A	ENSP00000310742.9:n.14+227G>A
ENST00000393412.7:c.-5+227G>A	ENSP00000377064.4:n.-5+227G>A
ENST00000393417.7:c.-5+227G>A	ENSP00000429021.2:n.-5+227G>A
ENST00000428863.6:c.-5+227G>A	ENSP00000410694.3:n.-5+227G>A
ENST00000462284.5:c.-5+227G>A	ENSP00000417281.2:n.-5+227G>A
ENST00000493419.1:n.210+227G>A
NM_001145339.2:c.14+227G>A	NP_001138811.1:n.14+227G>A
NM_002392.5:c.14+227G>A	NP_002383.2:n.14+227G>A
XM_006719400.2:c.-174+227G>A	XP_006719463.1:n.-174+227G>A
XM_005268872.5:c.-373G>A	XP_005268929.1:n.-373G>A
XM_006719400.4:c.-174+227G>A	XP_006719463.1:n.-174+227G>A
NM_002392.6:c.14+227G>A MANE Select	NP_002383.2:n.14+227G>A