Canonical Allele Identifier: CA5972543
Community Standard Title: NM_000107.3(DDB2):c.511C>G (p.Gln171Glu)
Gene: DDB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47232868C>G , CM000673.2:g.47232868C>G GRCh38
NC_000011.9:g.47254419C>G , CM000673.1:g.47254419C>G GRCh37
NC_000011.8:g.47210995C>G NCBI36
NG_009365.1:g.22927C>G , LRG_467:g.22927C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000107.3:c.511C>G MANE Select NP_000098.1:p.Gln171Glu
ENST00000256996.9:c.511C>G MANE Select ENSP00000256996.4:p.Gln171Glu
NM_000107.2:c.511C>G , LRG_467t1:c.511C>G NP_000098.1:p.Gln171Glu
NM_001300734.1:c.457-4969C>G NP_001287663.1:n.457-4969C>G
NM_001300734.2:c.457-4969C>G NP_001287663.1:n.457-4969C>G
NM_001399874.1:c.511C>G NP_001386803.1:p.Gln171Glu
NM_001399875.1:c.511C>G NP_001386804.1:p.Gln171Glu
NM_001399876.1:c.457-4969C>G NP_001386805.1:n.457-4969C>G
NM_001399878.1:c.319C>G NP_001386807.1:p.Gln107Glu
NR_174610.1:n.940C>G
NR_174611.1:n.798C>G
ENST00000256996.8:c.511C>G ENSP00000256996.3:p.Gln171Glu
ENST00000378600.7:c.457-4969C>G ENSP00000367863.3:n.457-4969C>G
ENST00000378601.7:c.511C>G ENSP00000367864.3:p.Gln171Glu
ENST00000378603.7:c.319C>G ENSP00000367866.3:p.Gln107Glu
ENST00000610805.4:c.*377C>G ENSP00000478063.1:n.*377C>G
ENST00000612309.4:n.1625C>G
ENST00000614825.4:c.511C>G ENSP00000483718.1:p.Gln171Glu
ENST00000616278.4:c.457-1705C>G ENSP00000478411.1:n.457-1705C>G
ENST00000617022.4:n.1554-4969C>G
ENST00000617847.4:c.192C>G
XR_242780.3:n.679C>G
XR_242780.4:n.679C>G