Canonical Allele Identifier: CA380296059

Gene: DDB2

Linked Data

• ClinVar Variation Id: 1050710
• ClinVar RCV Id: RCV001358474
• dbSNP Id: rs1953701307
• gnomAD v4: 11-47234848-A-G
• MyVariant Identifiers: chr11:g.47256399A>G (hg19) ; chr11:g.47234848A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234848A>G , CM000673.2:g.47234848A>G	GRCh38
NC_000011.9:g.47256399A>G , CM000673.1:g.47256399A>G	GRCh37
NC_000011.8:g.47212975A>G	NCBI36
NG_009365.1:g.24907A>G , LRG_467:g.24907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.794A>G MANE Select	ENSP00000256996.4:p.Gln265Arg
ENST00000256996.8:c.794A>G	ENSP00000256996.3:p.Gln265Arg
ENST00000378600.7:c.457-2989A>G	ENSP00000367863.3:n.457-2989A>G
ENST00000378601.7:c.702+176A>G	ENSP00000367864.3:n.702+176A>G
ENST00000378603.7:c.602A>G	ENSP00000367866.3:p.Gln201Arg
ENST00000612309.4:n.1908A>G
ENST00000614394.1:n.184A>G
ENST00000616278.4:c.556+176A>G	ENSP00000478411.1:n.556+176A>G
ENST00000617022.4:n.1554-2989A>G
ENST00000617847.4:c.723A>G
ENST00000620515.1:n.46+176A>G
NM_000107.2:c.794A>G , LRG_467t1:c.794A>G	NP_000098.1:p.Gln265Arg
NM_001300734.1:c.457-2989A>G	NP_001287663.1:n.457-2989A>G
XR_242780.3:n.870+176A>G
XR_242780.4:n.870+176A>G
NM_000107.3:c.794A>G MANE Select	NP_000098.1:p.Gln265Arg
NM_001300734.2:c.457-2989A>G	NP_001287663.1:n.457-2989A>G
NM_001399874.1:c.794A>G	NP_001386803.1:p.Gln265Arg
NM_001399875.1:c.794A>G	NP_001386804.1:p.Gln265Arg
NM_001399876.1:c.457-2989A>G	NP_001386805.1:n.457-2989A>G
NM_001399878.1:c.602A>G	NP_001386807.1:p.Gln201Arg
NR_174610.1:n.1131+176A>G
NR_174611.1:n.1081A>G