Canonical Allele Identifier: CA5972396
Community Standard Title: NM_000107.3(DDB2):c.59G>A (p.Arg20Lys)
Gene: DDB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47215195G>A , CM000673.2:g.47215195G>A GRCh38
NC_000011.9:g.47236746G>A , CM000673.1:g.47236746G>A GRCh37
NC_000011.8:g.47193322G>A NCBI36
NG_009365.1:g.5254G>A , LRG_467:g.5254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000107.3:c.59G>A MANE Select NP_000098.1:p.Arg20Lys
ENST00000256996.9:c.59G>A MANE Select ENSP00000256996.4:p.Arg20Lys
NM_000107.2:c.59G>A , LRG_467t1:c.59G>A NP_000098.1:p.Arg20Lys
NM_001300734.1:c.59G>A NP_001287663.1:p.Arg20Lys
NM_001300734.2:c.59G>A NP_001287663.1:p.Arg20Lys
NM_001399874.1:c.59G>A NP_001386803.1:p.Arg20Lys
NM_001399875.1:c.59G>A NP_001386804.1:p.Arg20Lys
NM_001399876.1:c.59G>A NP_001386805.1:p.Arg20Lys
NM_001399878.1:c.59G>A NP_001386807.1:p.Arg20Lys
NR_174610.1:n.346G>A
NR_174611.1:n.346G>A
ENST00000256996.8:c.59G>A ENSP00000256996.3:p.Arg20Lys
ENST00000378600.7:c.59G>A ENSP00000367863.3:p.Arg20Lys
ENST00000378601.7:c.59G>A ENSP00000367864.3:p.Arg20Lys
ENST00000378603.7:c.59G>A ENSP00000367866.3:p.Arg20Lys
ENST00000610805.4:c.59G>A ENSP00000478063.1:p.Arg20Lys
ENST00000612309.4:n.101G>A
ENST00000614825.4:c.59G>A ENSP00000483718.1:p.Arg20Lys
ENST00000615695.1:n.138G>A
ENST00000616278.4:c.59G>A ENSP00000478411.1:p.Arg20Lys
ENST00000617022.4:n.84G>A
ENST00000622090.4:c.59G>A ENSP00000479994.1:p.Arg20Lys
ENST00000622878.4:c.59G>A ENSP00000479196.1:p.Arg20Lys
XR_242780.3:n.227G>A
XR_242780.4:n.227G>A