Canonical Allele Identifier: CA5972702
Community Standard Title: NM_000107.3(DDB2):c.1053T>C (p.Ile351=)
Gene: DDB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47237866T>C , CM000673.2:g.47237866T>C GRCh38
NC_000011.9:g.47259417T>C , CM000673.1:g.47259417T>C GRCh37
NC_000011.8:g.47215993T>C NCBI36
NG_009365.1:g.27925T>C , LRG_467:g.27925T>C
NG_023296.1:g.16041A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000107.3:c.1053T>C MANE Select NP_000098.1:p.Ile351=
ENST00000256996.9:c.1053T>C MANE Select ENSP00000256996.4:p.Ile351=
NM_000107.2:c.1053T>C , LRG_467t1:c.1053T>C NP_000098.1:p.Ile351=
NM_001300734.1:c.486T>C NP_001287663.1:p.Ile162=
NM_001300734.2:c.486T>C NP_001287663.1:p.Ile162=
NM_001399874.1:c.1053T>C NP_001386803.1:p.Ile351=
NM_001399875.1:c.1053T>C NP_001386804.1:p.Ile351=
NM_001399876.1:c.486T>C NP_001386805.1:p.Ile162=
NM_001399878.1:c.861T>C NP_001386807.1:p.Ile287=
NR_174610.1:n.1304T>C
NR_174611.1:n.1282T>C
ENST00000256996.8:c.1053T>C ENSP00000256996.3:p.Ile351=
ENST00000378600.7:c.486T>C ENSP00000367863.3:p.Ile162=
ENST00000378601.7:c.*140T>C ENSP00000367864.3:n.*140T>C
ENST00000378603.7:c.861T>C ENSP00000367866.3:p.Ile287=
ENST00000612309.4:n.2502T>C
ENST00000614884.1:n.61T>C
ENST00000616278.4:c.729T>C ENSP00000478411.1:n.729T>C
ENST00000617022.4:n.1583T>C
ENST00000617847.4:c.1076T>C
ENST00000620515.1:n.313T>C
XR_242780.3:n.1043T>C
XR_242780.4:n.1043T>C