Canonical Allele Identifier: CA2044135560
Community Standard Title: NM_002392.6(MDM2):c.1080A= (p.Glu360=)
Gene: MDM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68839435A= , CM000674.2:g.68839435A= GRCh38
NC_000012.11:g.69233215A= , CM000674.1:g.69233215A= GRCh37
NC_000012.10:g.67519482A= NCBI36
NG_016708.1:g.36245A=

Transcript Alleles

HGVS Amino-acid Change
NM_002392.6:c.1080A= MANE Select NP_002383.2:p.Glu360=
ENST00000258149.11:c.1080A= MANE Select ENSP00000258149.6:p.Glu360=
NM_001145337.2:c.921A= NP_001138809.1:p.Glu307=
NM_001145337.3:c.921A= NP_001138809.1:p.Glu307=
NM_001145339.2:c.915A= NP_001138811.1:p.Glu305=
NM_001145340.2:c.474A= NP_001138812.1:p.Glu158=
NM_001145340.3:c.474A= NP_001138812.1:p.Glu158=
NM_001278462.1:c.552A= NP_001265391.1:p.Glu184=
NM_001278462.2:c.552A= NP_001265391.1:p.Glu184=
NM_001367990.1:c.1062A= NP_001354919.1:p.Glu354=
NM_002392.5:c.1080A= NP_002383.2:p.Glu360=
ENST00000258148.11:c.915A= ENSP00000258148.7:p.Glu305=
ENST00000258149.10:c.1080A= ENSP00000258149.6:p.Glu360=
ENST00000258149.9:c.1080A= ENSP00000258149.6:p.Glu360=
ENST00000299252.8:c.552A= ENSP00000299252.4:p.Glu184=
ENST00000311420.13:c.*691A= ENSP00000310742.9:n.*691A=
ENST00000348801.6:c.384A= ENSP00000335096.3:p.Glu128=
ENST00000348801.7:c.385A=
ENST00000350057.9:c.987A= ENSP00000266624.9:p.Glu329=
ENST00000356290.8:c.552A= ENSP00000348637.4:p.Glu184=
ENST00000360430.6:c.477A= ENSP00000353611.2:p.Glu159=
ENST00000393410.5:c.318A= ENSP00000377062.1:p.Glu106=
ENST00000393412.7:c.318A= ENSP00000377064.4:p.Glu106=
ENST00000393413.7:c.243A= ENSP00000377065.3:p.Glu81=
ENST00000393416.7:c.1155A= ENSP00000377068.3:p.Glu385=
ENST00000393417.7:c.*936A= ENSP00000429021.2:n.*936A=
ENST00000393417.8:c.*936A= ENSP00000429021.3:n.*936A=
ENST00000428863.6:c.506-188A= ENSP00000410694.3:n.506-188A=
ENST00000462284.5:c.987A= ENSP00000417281.2:p.Glu329=
ENST00000478070.1:c.278A= ENSP00000430906.1:n.278A=
ENST00000478070.2:c.279A=
ENST00000481186.5:c.642A= ENSP00000431110.1:n.642A=
ENST00000481186.6:c.643A=
ENST00000496959.5:c.483A= ENSP00000429692.1:n.483A=
ENST00000517852.5:c.157-178A= ENSP00000430257.1:n.157-178A=
ENST00000536089.5:c.767A= ENSP00000444028.1:n.767A=
ENST00000537182.5:c.597A= ENSP00000443450.1:n.597A=
ENST00000539479.6:c.1062A= ENSP00000444430.2:p.Glu354=
ENST00000540352.5:c.901A= ENSP00000445030.1:n.901A=
ENST00000542502.5:c.713A= ENSP00000444566.1:n.713A=
ENST00000544561.5:c.184-327A= ENSP00000441841.1:n.184-327A=
ENST00000544561.6:c.954A= ENSP00000441841.2:p.Glu318=
ENST00000545204.1:c.88-104A= ENSP00000444597.1:n.88-104A=
ENST00000545204.2:c.340A= ENSP00000444597.2:n.340A=
ENST00000546048.5:c.289-340A= ENSP00000445222.1:n.289-340A=
ENST00000665020.1:c.946A= ENSP00000499718.1:n.946A=
ENST00000666617.1:c.973A= ENSP00000499763.1:n.973A=
ENST00000671567.1:c.1001A= ENSP00000499407.1:n.1001A=
XM_005268872.3:c.1062A= XP_005268929.1:p.Glu354=
XM_005268872.5:c.1062A= XP_005268929.1:p.Glu354=
XM_006719399.2:c.879A= XP_006719462.1:p.Glu293=
XM_006719399.4:c.879A= XP_006719462.1:p.Glu293=
XM_006719400.2:c.759A= XP_006719463.1:p.Glu253=
XM_006719400.4:c.759A= XP_006719463.1:p.Glu253=