Canonical Allele Identifier: CA605759021

Gene: MDM2

Linked Data

• dbSNP Id: rs1290006238
• gnomAD v2: 12-69202509-T-G
• gnomAD v3: 12-68808729-T-G
• gnomAD v4: 12-68808729-T-G
• MyVariant Identifiers: chr12:g.69202509T>G (hg19) ; chr12:g.68808729T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.68808729T>G , CM000674.2:g.68808729T>G	GRCh38
NC_000012.11:g.69202509T>G , CM000674.1:g.69202509T>G	GRCh37
NC_000012.10:g.67488776T>G	NCBI36
NG_016708.1:g.5539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258149.11:c.14+238T>G MANE Select	ENSP00000258149.6:n.14+238T>G
ENST00000258149.10:c.14+238T>G	ENSP00000258149.6:n.14+238T>G
ENST00000393417.8:c.14+238T>G	ENSP00000429021.3:n.14+238T>G
ENST00000258148.11:c.14+238T>G	ENSP00000258148.7:n.14+238T>G
ENST00000258149.9:c.14+238T>G	ENSP00000258149.6:n.14+238T>G
ENST00000311420.13:c.14+238T>G	ENSP00000310742.9:n.14+238T>G
ENST00000393412.7:c.-5+238T>G	ENSP00000377064.4:n.-5+238T>G
ENST00000393417.7:c.-5+238T>G	ENSP00000429021.2:n.-5+238T>G
ENST00000428863.6:c.-5+238T>G	ENSP00000410694.3:n.-5+238T>G
ENST00000462284.5:c.-5+238T>G	ENSP00000417281.2:n.-5+238T>G
ENST00000493419.1:n.210+238T>G
NM_001145339.2:c.14+238T>G	NP_001138811.1:n.14+238T>G
NM_002392.5:c.14+238T>G	NP_002383.2:n.14+238T>G
XM_006719400.2:c.-174+238T>G	XP_006719463.1:n.-174+238T>G
XM_005268872.5:c.-362T>G	XP_005268929.1:n.-362T>G
XM_006719400.4:c.-174+238T>G	XP_006719463.1:n.-174+238T>G
NM_002392.6:c.14+238T>G MANE Select	NP_002383.2:n.14+238T>G