Canonical Allele Identifier: CA254558
Gene: DDB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 8789
ClinVar RCV Id: RCV000009334
dbSNP Id: rs121434641

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47235326C>T , CM000673.2:g.47235326C>T GRCh38
NC_000011.9:g.47256877C>T , CM000673.1:g.47256877C>T GRCh37
NC_000011.8:g.47213453C>T NCBI36
NG_009365.1:g.25385C>T , LRG_467:g.25385C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.937C>T MANE Select ENSP00000256996.4:p.Arg313Ter
ENST00000256996.8:c.937C>T ENSP00000256996.3:p.Arg313Ter
ENST00000378600.7:c.457-2511C>T ENSP00000367863.3:n.457-2511C>T
ENST00000378601.7:c.*24C>T ENSP00000367864.3:n.*24C>T
ENST00000378603.7:c.745C>T ENSP00000367866.3:p.Arg249Ter
ENST00000612309.4:n.2386C>T
ENST00000614394.1:n.327C>T
ENST00000616278.4:c.613C>T ENSP00000478411.1:n.613C>T
ENST00000617022.4:n.1554-2511C>T
ENST00000617847.4:c.866C>T
ENST00000620515.1:n.103C>T
NM_000107.2:c.937C>T , LRG_467t1:c.937C>T NP_000098.1:p.Arg313Ter
NM_001300734.1:c.457-2511C>T NP_001287663.1:n.457-2511C>T
XR_242780.3:n.927C>T
XR_242780.4:n.927C>T
NM_000107.3:c.937C>T MANE Select NP_000098.1:p.Arg313Ter
NM_001300734.2:c.457-2511C>T NP_001287663.1:n.457-2511C>T
NM_001399874.1:c.937C>T NP_001386803.1:p.Arg313Ter
NM_001399875.1:c.937C>T NP_001386804.1:p.Arg313Ter
NM_001399876.1:c.457-2511C>T NP_001386805.1:n.457-2511C>T
NM_001399878.1:c.745C>T NP_001386807.1:p.Arg249Ter
NR_174610.1:n.1188C>T
NR_174611.1:n.1166C>T