Canonical Allele Identifier: CA13690051

Gene: MDM2

Linked Data

• dbSNP Id: rs3730536
• gnomAD v2: 12-69212010-A-G
• gnomAD v3: 12-68818230-A-G
• gnomAD v4: 12-68818230-A-G
• MyVariant Identifiers: chr12:g.69212010A>G (hg19) ; chr12:g.68818230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68818230A>G , CM000674.2:g.68818230A>G	GRCh38
NC_000012.11:g.69212010A>G , CM000674.1:g.69212010A>G	GRCh37
NC_000012.10:g.67498277A>G	NCBI36
NG_016708.1:g.15040A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258149.11:c.308+1285A>G MANE Select	ENSP00000258149.6:n.308+1285A>G
ENST00000258149.10:c.308+1285A>G	ENSP00000258149.6:n.308+1285A>G
ENST00000348801.7:c.67+8938A>G
ENST00000393416.7:c.383+1285A>G	ENSP00000377068.3:n.383+1285A>G
ENST00000393417.8:c.*164+1285A>G	ENSP00000429021.3:n.*164+1285A>G
ENST00000478070.2:c.68-2095A>G
ENST00000481186.6:c.83-6133A>G
ENST00000539479.6:c.290+1285A>G	ENSP00000444430.2:n.290+1285A>G
ENST00000544561.6:c.157-2095A>G	ENSP00000441841.2:n.157-2095A>G
ENST00000545204.2:c.82-6325A>G	ENSP00000444597.2:n.82-6325A>G
ENST00000665020.1:c.290+1285A>G	ENSP00000499718.1:n.290+1285A>G
ENST00000666617.1:c.157-1723A>G	ENSP00000499763.1:n.157-1723A>G
ENST00000671567.1:c.290+1285A>G	ENSP00000499407.1:n.290+1285A>G
ENST00000258148.11:c.308+1285A>G	ENSP00000258148.7:n.308+1285A>G
ENST00000258149.9:c.308+1285A>G	ENSP00000258149.6:n.308+1285A>G
ENST00000299252.8:c.156+4602A>G	ENSP00000299252.4:n.156+4602A>G
ENST00000311420.13:c.175-2095A>G	ENSP00000310742.9:n.175-2095A>G
ENST00000348801.6:c.66+8938A>G	ENSP00000335096.3:n.66+8938A>G
ENST00000350057.9:c.215+1285A>G	ENSP00000266624.9:n.215+1285A>G
ENST00000356290.8:c.156+4602A>G	ENSP00000348637.4:n.156+4602A>G
ENST00000360430.6:c.81+8938A>G	ENSP00000353611.2:n.81+8938A>G
ENST00000393410.5:c.156+4602A>G	ENSP00000377062.1:n.156+4602A>G
ENST00000393412.7:c.156+4602A>G	ENSP00000377064.4:n.156+4602A>G
ENST00000393413.7:c.81+8938A>G	ENSP00000377065.3:n.81+8938A>G
ENST00000393415.7:c.290+1285A>G	ENSP00000377067.3:n.290+1285A>G
ENST00000393416.6:c.383+1285A>G	ENSP00000377068.2:n.383+1285A>G
ENST00000393417.7:c.*164+1285A>G	ENSP00000429021.2:n.*164+1285A>G
ENST00000428863.6:c.290+1285A>G	ENSP00000410694.3:n.290+1285A>G
ENST00000462284.5:c.215+1285A>G	ENSP00000417281.2:n.215+1285A>G
ENST00000471946.1:n.161+1285A>G
ENST00000478070.1:c.67-2095A>G	ENSP00000430906.1:n.67-2095A>G
ENST00000481186.5:c.82-6133A>G	ENSP00000431110.1:n.82-6133A>G
ENST00000496959.5:c.156+4602A>G	ENSP00000429692.1:n.156+4602A>G
ENST00000517852.5:c.156+4602A>G	ENSP00000430257.1:n.156+4602A>G
ENST00000523991.5:c.156+4602A>G	ENSP00000427828.1:n.156+4602A>G
ENST00000536089.5:c.157-2095A>G	ENSP00000444028.1:n.157-2095A>G
ENST00000537182.5:c.157-2095A>G	ENSP00000443450.1:n.157-2095A>G
ENST00000539479.5:c.290+1285A>G	ENSP00000444430.1:n.290+1285A>G
ENST00000540352.5:c.290+1285A>G	ENSP00000445030.1:n.290+1285A>G
ENST00000542502.5:c.156+4602A>G	ENSP00000444566.1:n.156+4602A>G
ENST00000543323.5:c.156+4602A>G	ENSP00000439238.1:n.156+4602A>G
ENST00000544561.5:c.183+1392A>G	ENSP00000441841.1:n.183+1392A>G
ENST00000545204.1:c.87+8932A>G	ENSP00000444597.1:n.87+8932A>G
ENST00000546048.5:c.157-2095A>G	ENSP00000445222.1:n.157-2095A>G
NM_001145337.2:c.290+1285A>G	NP_001138809.1:n.290+1285A>G
NM_001145339.2:c.308+1285A>G	NP_001138811.1:n.308+1285A>G
NM_001145340.2:c.156+4602A>G	NP_001138812.1:n.156+4602A>G
NM_001278462.1:c.156+4602A>G	NP_001265391.1:n.156+4602A>G
NM_002392.5:c.308+1285A>G	NP_002383.2:n.308+1285A>G
XM_005268872.3:c.290+1285A>G	XP_005268929.1:n.290+1285A>G
XM_006719399.2:c.107+1285A>G	XP_006719462.1:n.107+1285A>G
XM_006719400.2:c.-13-2095A>G	XP_006719463.1:n.-13-2095A>G
XM_005268872.5:c.290+1285A>G	XP_005268929.1:n.290+1285A>G
XM_006719399.4:c.107+1285A>G	XP_006719462.1:n.107+1285A>G
XM_006719400.4:c.-13-2095A>G	XP_006719463.1:n.-13-2095A>G
NM_001145337.3:c.290+1285A>G	NP_001138809.1:n.290+1285A>G
NM_001145340.3:c.156+4602A>G	NP_001138812.1:n.156+4602A>G
NM_001278462.2:c.156+4602A>G	NP_001265391.1:n.156+4602A>G
NM_001367990.1:c.290+1285A>G	NP_001354919.1:n.290+1285A>G
NM_002392.6:c.308+1285A>G MANE Select	NP_002383.2:n.308+1285A>G