Canonical Allele Identifier: CA380297071

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256917T>G (hg19) ; chr11:g.47235366T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235366T>G , CM000673.2:g.47235366T>G	GRCh38
NC_000011.9:g.47256917T>G , CM000673.1:g.47256917T>G	GRCh37
NC_000011.8:g.47213493T>G	NCBI36
NG_009365.1:g.25425T>G , LRG_467:g.25425T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.977T>G MANE Select	ENSP00000256996.4:p.Leu326Arg
ENST00000256996.8:c.977T>G	ENSP00000256996.3:p.Leu326Arg
ENST00000378600.7:c.457-2471T>G	ENSP00000367863.3:n.457-2471T>G
ENST00000378601.7:c.*64T>G	ENSP00000367864.3:n.*64T>G
ENST00000378603.7:c.785T>G	ENSP00000367866.3:p.Leu262Arg
ENST00000612309.4:n.2426T>G
ENST00000614394.1:n.367T>G
ENST00000616278.4:c.653T>G	ENSP00000478411.1:n.653T>G
ENST00000617022.4:n.1554-2471T>G
ENST00000617847.4:c.906T>G
ENST00000620515.1:n.143T>G
NM_000107.2:c.977T>G , LRG_467t1:c.977T>G	NP_000098.1:p.Leu326Arg
NM_001300734.1:c.457-2471T>G	NP_001287663.1:n.457-2471T>G
XR_242780.3:n.967T>G
XR_242780.4:n.967T>G
NM_000107.3:c.977T>G MANE Select	NP_000098.1:p.Leu326Arg
NM_001300734.2:c.457-2471T>G	NP_001287663.1:n.457-2471T>G
NM_001399874.1:c.977T>G	NP_001386803.1:p.Leu326Arg
NM_001399875.1:c.977T>G	NP_001386804.1:p.Leu326Arg
NM_001399876.1:c.457-2471T>G	NP_001386805.1:n.457-2471T>G
NM_001399878.1:c.785T>G	NP_001386807.1:p.Leu262Arg
NR_174610.1:n.1228T>G
NR_174611.1:n.1206T>G