Canonical Allele Identifier: CA254554
Gene: DDB2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8787
ClinVar RCV Id: RCV000009332
dbSNP Id: rs121434639

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47234784A>G , CM000673.2:g.47234784A>G GRCh38
NC_000011.8:g.47212911A>G NCBI36
NC_000011.9:g.47256335A>G , CM000673.1:g.47256335A>G GRCh37
NG_009365.1:g.24843A>G , LRG_467:g.24843A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000256996.8:c.730A>G ENSP00000256996.3:p.Lys244Glu
ENST00000378600.7:n.457-3053A>G ENSP00000367863.3:p.=
ENST00000378601.7:c.702+112A>G ENSP00000367864.3:p.=
ENST00000378603.7:n.538A>G ENSP00000367866.3:p.Lys180Glu
ENST00000612309.4:n.1844A>G
ENST00000614394.1:n.120A>G
ENST00000616278.4:n.556+112A>G ENSP00000478411.1:p.=
ENST00000617022.4:n.1554-3053A>G
ENST00000617847.4:n.659A>G
ENST00000620515.1:n.46+112A>G
NM_000107.2:c.730A>G , LRG_467t1:c.730A>G NP_000098.1:p.Lys244Glu
NM_001300734.1:c.457-3053A>G VV NP_001287663.1:p.=
XR_242780.3:n.870+112A>G