Canonical Allele Identifier: CA380296986

Gene: DDB2

Linked Data

• MyVariant Identifiers: chr11:g.47256900G>C (hg19) ; chr11:g.47235349G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235349G>C , CM000673.2:g.47235349G>C	GRCh38
NC_000011.9:g.47256900G>C , CM000673.1:g.47256900G>C	GRCh37
NC_000011.8:g.47213476G>C	NCBI36
NG_009365.1:g.25408G>C , LRG_467:g.25408G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.960G>C MANE Select	ENSP00000256996.4:p.Trp320Cys
ENST00000256996.8:c.960G>C	ENSP00000256996.3:p.Trp320Cys
ENST00000378600.7:c.457-2488G>C	ENSP00000367863.3:n.457-2488G>C
ENST00000378601.7:c.*47G>C	ENSP00000367864.3:n.*47G>C
ENST00000378603.7:c.768G>C	ENSP00000367866.3:p.Trp256Cys
ENST00000612309.4:n.2409G>C
ENST00000614394.1:n.350G>C
ENST00000616278.4:c.636G>C	ENSP00000478411.1:n.636G>C
ENST00000617022.4:n.1554-2488G>C
ENST00000617847.4:c.889G>C
ENST00000620515.1:n.126G>C
NM_000107.2:c.960G>C , LRG_467t1:c.960G>C	NP_000098.1:p.Trp320Cys
NM_001300734.1:c.457-2488G>C	NP_001287663.1:n.457-2488G>C
XR_242780.3:n.950G>C
XR_242780.4:n.950G>C
NM_000107.3:c.960G>C MANE Select	NP_000098.1:p.Trp320Cys
NM_001300734.2:c.457-2488G>C	NP_001287663.1:n.457-2488G>C
NM_001399874.1:c.960G>C	NP_001386803.1:p.Trp320Cys
NM_001399875.1:c.960G>C	NP_001386804.1:p.Trp320Cys
NM_001399876.1:c.457-2488G>C	NP_001386805.1:n.457-2488G>C
NM_001399878.1:c.768G>C	NP_001386807.1:p.Trp256Cys
NR_174610.1:n.1211G>C
NR_174611.1:n.1189G>C