Canonical Allele Identifier: CA380296950

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256893C>A (hg19) ; chr11:g.47235342C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235342C>A , CM000673.2:g.47235342C>A	GRCh38
NC_000011.9:g.47256893C>A , CM000673.1:g.47256893C>A	GRCh37
NC_000011.8:g.47213469C>A	NCBI36
NG_009365.1:g.25401C>A , LRG_467:g.25401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.953C>A MANE Select	ENSP00000256996.4:p.Ser318Tyr
ENST00000256996.8:c.953C>A	ENSP00000256996.3:p.Ser318Tyr
ENST00000378600.7:c.457-2495C>A	ENSP00000367863.3:n.457-2495C>A
ENST00000378601.7:c.*40C>A	ENSP00000367864.3:n.*40C>A
ENST00000378603.7:c.761C>A	ENSP00000367866.3:p.Ser254Tyr
ENST00000612309.4:n.2402C>A
ENST00000614394.1:n.343C>A
ENST00000616278.4:c.629C>A	ENSP00000478411.1:n.629C>A
ENST00000617022.4:n.1554-2495C>A
ENST00000617847.4:c.882C>A
ENST00000620515.1:n.119C>A
NM_000107.2:c.953C>A , LRG_467t1:c.953C>A	NP_000098.1:p.Ser318Tyr
NM_001300734.1:c.457-2495C>A	NP_001287663.1:n.457-2495C>A
XR_242780.3:n.943C>A
XR_242780.4:n.943C>A
NM_000107.3:c.953C>A MANE Select	NP_000098.1:p.Ser318Tyr
NM_001300734.2:c.457-2495C>A	NP_001287663.1:n.457-2495C>A
NM_001399874.1:c.953C>A	NP_001386803.1:p.Ser318Tyr
NM_001399875.1:c.953C>A	NP_001386804.1:p.Ser318Tyr
NM_001399876.1:c.457-2495C>A	NP_001386805.1:n.457-2495C>A
NM_001399878.1:c.761C>A	NP_001386807.1:p.Ser254Tyr
NR_174610.1:n.1204C>A
NR_174611.1:n.1182C>A