Canonical Allele Identifier: CA13750671
Gene: MDM2 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.68841626G>A
GRCh37 chr12:g.69235406G>A
gnomAD v2:
12:69235406 G / A
gnomAD v3:
12:68841626 G / A
gnomAD v4:
chr12-68841626-G-A
Joint Max Group AF 0.41174087 (NFE)
Genomes Max Group AF 0.41914254 (NFE)
Exomes Max Group AF 0.39371173 (NFE)
dbSNP:
1690916
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68841626G>A , CM000674.2:g.68841626G>A GRCh38
NC_000012.11:g.69235406G>A , CM000674.1:g.69235406G>A GRCh37
NC_000012.10:g.67521673G>A NCBI36
NG_016708.1:g.38436G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258149.11:c.*1777G>A MANE Select ENSP00000258149.6:n.*1777G>A
ENST00000258149.10:c.*1777G>A ENSP00000258149.6:n.*1777G>A
ENST00000258149.9:c.*1777G>A ENSP00000258149.6:n.*1777G>A
ENST00000356290.8:c.*1777G>A ENSP00000348637.4:n.*1777G>A
ENST00000462284.5:c.*1777G>A ENSP00000417281.2:n.*1777G>A
NM_001145337.2:c.*1777G>A NP_001138809.1:n.*1777G>A
NM_001145339.2:c.*1777G>A NP_001138811.1:n.*1777G>A
NM_001145340.2:c.*1777G>A NP_001138812.1:n.*1777G>A
NM_001278462.1:c.*1777G>A NP_001265391.1:n.*1777G>A
NM_002392.5:c.*1777G>A NP_002383.2:n.*1777G>A
XM_005268872.5:c.*1777G>A XP_005268929.1:n.*1777G>A
XM_006719399.4:c.*1777G>A XP_006719462.1:n.*1777G>A
XM_006719400.4:c.*1777G>A XP_006719463.1:n.*1777G>A
NM_001145337.3:c.*1777G>A NP_001138809.1:n.*1777G>A
NM_001145340.3:c.*1777G>A NP_001138812.1:n.*1777G>A
NM_001278462.2:c.*1777G>A NP_001265391.1:n.*1777G>A
NM_001367990.1:c.*1777G>A NP_001354919.1:n.*1777G>A
NM_002392.6:c.*1777G>A MANE Select NP_002383.2:n.*1777G>A
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