Canonical Allele Identifier: CA5972623

Gene: DDB2

Linked Data

• dbSNP Id: rs780286263
• ExAC: 11:47256403 A / G
• gnomAD v2: 11-47256403-A-G
• gnomAD v4: 11-47234852-A-G
• MyVariant Identifiers: chr11:g.47256403A>G (hg19) ; chr11:g.47234852A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234852A>G , CM000673.2:g.47234852A>G	GRCh38
NC_000011.9:g.47256403A>G , CM000673.1:g.47256403A>G	GRCh37
NC_000011.8:g.47212979A>G	NCBI36
NG_009365.1:g.24911A>G , LRG_467:g.24911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.798A>G MANE Select	ENSP00000256996.4:p.Thr266=
ENST00000256996.8:c.798A>G	ENSP00000256996.3:p.Thr266=
ENST00000378600.7:c.457-2985A>G	ENSP00000367863.3:n.457-2985A>G
ENST00000378601.7:c.702+180A>G	ENSP00000367864.3:n.702+180A>G
ENST00000378603.7:c.606A>G	ENSP00000367866.3:p.Thr202=
ENST00000612309.4:n.1912A>G
ENST00000614394.1:n.188A>G
ENST00000616278.4:c.556+180A>G	ENSP00000478411.1:n.556+180A>G
ENST00000617022.4:n.1554-2985A>G
ENST00000617847.4:c.727A>G
ENST00000620515.1:n.46+180A>G
NM_000107.2:c.798A>G , LRG_467t1:c.798A>G	NP_000098.1:p.Thr266=
NM_001300734.1:c.457-2985A>G	NP_001287663.1:n.457-2985A>G
XR_242780.3:n.870+180A>G
XR_242780.4:n.870+180A>G
NM_000107.3:c.798A>G MANE Select	NP_000098.1:p.Thr266=
NM_001300734.2:c.457-2985A>G	NP_001287663.1:n.457-2985A>G
NM_001399874.1:c.798A>G	NP_001386803.1:p.Thr266=
NM_001399875.1:c.798A>G	NP_001386804.1:p.Thr266=
NM_001399876.1:c.457-2985A>G	NP_001386805.1:n.457-2985A>G
NM_001399878.1:c.606A>G	NP_001386807.1:p.Thr202=
NR_174610.1:n.1131+180A>G
NR_174611.1:n.1085A>G