Canonical Allele Identifier: CA254556
Gene: DDB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8788
dbSNP Id: rs121434640

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47234872G>A , CM000673.2:g.47234872G>A GRCh38
NC_000011.9:g.47256423G>A , CM000673.1:g.47256423G>A GRCh37
NC_000011.8:g.47212999G>A NCBI36
NG_009365.1:g.24931G>A , LRG_467:g.24931G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.818G>A MANE Select ENSP00000256996.4:p.Arg273His
ENST00000256996.8:c.818G>A ENSP00000256996.3:p.Arg273His
ENST00000378600.7:c.457-2965G>A ENSP00000367863.3:n.457-2965G>A
ENST00000378601.7:c.702+200G>A ENSP00000367864.3:n.702+200G>A
ENST00000378603.7:c.626G>A ENSP00000367866.3:p.Arg209His
ENST00000612309.4:n.1932G>A
ENST00000614394.1:n.208G>A
ENST00000616278.4:c.556+200G>A ENSP00000478411.1:n.556+200G>A
ENST00000617022.4:n.1554-2965G>A
ENST00000617847.4:c.747G>A
ENST00000620515.1:n.46+200G>A
NM_000107.2:c.818G>A , LRG_467t1:c.818G>A NP_000098.1:p.Arg273His
NM_001300734.1:c.457-2965G>A NP_001287663.1:n.457-2965G>A
XR_242780.3:n.870+200G>A
XR_242780.4:n.870+200G>A
NM_000107.3:c.818G>A MANE Select NP_000098.1:p.Arg273His
NM_001300734.2:c.457-2965G>A NP_001287663.1:n.457-2965G>A
NM_001399874.1:c.818G>A NP_001386803.1:p.Arg273His
NM_001399875.1:c.818G>A NP_001386804.1:p.Arg273His
NM_001399876.1:c.457-2965G>A NP_001386805.1:n.457-2965G>A
NM_001399878.1:c.626G>A NP_001386807.1:p.Arg209His
NR_174610.1:n.1131+200G>A
NR_174611.1:n.1105G>A