Canonical Allele Identifier: CA380296078

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256402C>A (hg19) ; chr11:g.47234851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234851C>A , CM000673.2:g.47234851C>A	GRCh38
NC_000011.9:g.47256402C>A , CM000673.1:g.47256402C>A	GRCh37
NC_000011.8:g.47212978C>A	NCBI36
NG_009365.1:g.24910C>A , LRG_467:g.24910C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.797C>A MANE Select	ENSP00000256996.4:p.Thr266Lys
ENST00000256996.8:c.797C>A	ENSP00000256996.3:p.Thr266Lys
ENST00000378600.7:c.457-2986C>A	ENSP00000367863.3:n.457-2986C>A
ENST00000378601.7:c.702+179C>A	ENSP00000367864.3:n.702+179C>A
ENST00000378603.7:c.605C>A	ENSP00000367866.3:p.Thr202Lys
ENST00000612309.4:n.1911C>A
ENST00000614394.1:n.187C>A
ENST00000616278.4:c.556+179C>A	ENSP00000478411.1:n.556+179C>A
ENST00000617022.4:n.1554-2986C>A
ENST00000617847.4:c.726C>A
ENST00000620515.1:n.46+179C>A
NM_000107.2:c.797C>A , LRG_467t1:c.797C>A	NP_000098.1:p.Thr266Lys
NM_001300734.1:c.457-2986C>A	NP_001287663.1:n.457-2986C>A
XR_242780.3:n.870+179C>A
XR_242780.4:n.870+179C>A
NM_000107.3:c.797C>A MANE Select	NP_000098.1:p.Thr266Lys
NM_001300734.2:c.457-2986C>A	NP_001287663.1:n.457-2986C>A
NM_001399874.1:c.797C>A	NP_001386803.1:p.Thr266Lys
NM_001399875.1:c.797C>A	NP_001386804.1:p.Thr266Lys
NM_001399876.1:c.457-2986C>A	NP_001386805.1:n.457-2986C>A
NM_001399878.1:c.605C>A	NP_001386807.1:p.Thr202Lys
NR_174610.1:n.1131+179C>A
NR_174611.1:n.1084C>A