LDH info

Canonical Allele Identifier: CA123622
Gene: MDM2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13904
ClinVar RCV Id: RCV000014918
dbSNP Id: rs2279744

User contributed link-outs

CIViC: CA123622

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.68808800T>G , CM000674.2:g.68808800T>G GRCh38
NC_000012.11:g.69202580T>G , CM000674.1:g.69202580T>G GRCh37
NC_000012.10:g.67488847T>G NCBI36
NG_016708.1:g.5610T>G

Transcript Alleles

HGVS Amino-acid change
NM_001145339.2:c.14+309T>G VV NP_001138811.1:p.=
NM_002392.5:c.14+309T>G VV NP_002383.2:p.=
XM_006719400.2:c.-174+309T>G XP_006719463.1:p.=
XM_005268872.5:c.-291T>G XP_005268929.1:p.=
XM_006719400.4:c.-174+309T>G XP_006719463.1:p.=
ENST00000258148.11:c.14+309T>G ENSP00000258148.7:p.=
ENST00000258149.9:c.14+309T>G ENSP00000258149.6:p.=
ENST00000311420.13:c.14+309T>G ENSP00000310742.9:p.=
ENST00000393412.7:c.-5+309T>G ENSP00000377064.4:p.=
ENST00000393417.7:c.-5+309T>G ENSP00000429021.2:p.=
ENST00000428863.6:c.-5+309T>G ENSP00000410694.3:p.=
ENST00000462284.5:c.-5+309T>G ENSP00000417281.2:p.=
ENST00000493419.1:n.210+309T>G