Canonical Allele Identifier: CA380296299

Gene: DDB2

Linked Data

• dbSNP Id: rs1175198449
• gnomAD v2: 11-47256444-G-A
• MyVariant Identifiers: chr11:g.47256444G>A (hg19) ; chr11:g.47234893G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234893G>A , CM000673.2:g.47234893G>A	GRCh38
NC_000011.9:g.47256444G>A , CM000673.1:g.47256444G>A	GRCh37
NC_000011.8:g.47213020G>A	NCBI36
NG_009365.1:g.24952G>A , LRG_467:g.24952G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.839G>A MANE Select	ENSP00000256996.4:p.Ser280Asn
ENST00000256996.8:c.839G>A	ENSP00000256996.3:p.Ser280Asn
ENST00000378600.7:c.457-2944G>A	ENSP00000367863.3:n.457-2944G>A
ENST00000378601.7:c.702+221G>A	ENSP00000367864.3:n.702+221G>A
ENST00000378603.7:c.647G>A	ENSP00000367866.3:p.Ser216Asn
ENST00000612309.4:n.1953G>A
ENST00000614394.1:n.229G>A
ENST00000616278.4:c.556+221G>A	ENSP00000478411.1:n.556+221G>A
ENST00000617022.4:n.1554-2944G>A
ENST00000617847.4:c.768G>A
ENST00000620515.1:n.46+221G>A
NM_000107.2:c.839G>A , LRG_467t1:c.839G>A	NP_000098.1:p.Ser280Asn
NM_001300734.1:c.457-2944G>A	NP_001287663.1:n.457-2944G>A
XR_242780.3:n.870+221G>A
XR_242780.4:n.870+221G>A
NM_000107.3:c.839G>A MANE Select	NP_000098.1:p.Ser280Asn
NM_001300734.2:c.457-2944G>A	NP_001287663.1:n.457-2944G>A
NM_001399874.1:c.839G>A	NP_001386803.1:p.Ser280Asn
NM_001399875.1:c.839G>A	NP_001386804.1:p.Ser280Asn
NM_001399876.1:c.457-2944G>A	NP_001386805.1:n.457-2944G>A
NM_001399878.1:c.647G>A	NP_001386807.1:p.Ser216Asn
NR_174610.1:n.1131+221G>A
NR_174611.1:n.1109+17G>A