Canonical Allele Identifier: CA474229175
Gene: DDB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47256879A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47235328A>T , CM000673.2:g.47235328A>T GRCh38
NC_000011.9:g.47256879A>T , CM000673.1:g.47256879A>T GRCh37
NC_000011.8:g.47213455A>T NCBI36
NG_009365.1:g.25387A>T , LRG_467:g.25387A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.939A>T MANE Select ENSP00000256996.4:p.Arg313=
ENST00000256996.8:c.939A>T ENSP00000256996.3:p.Arg313=
ENST00000378600.7:c.457-2509A>T ENSP00000367863.3:n.457-2509A>T
ENST00000378601.7:c.*26A>T ENSP00000367864.3:n.*26A>T
ENST00000378603.7:c.747A>T ENSP00000367866.3:p.Arg249=
ENST00000612309.4:n.2388A>T
ENST00000614394.1:n.329A>T
ENST00000616278.4:c.615A>T ENSP00000478411.1:n.615A>T
ENST00000617022.4:n.1554-2509A>T
ENST00000617847.4:c.868A>T
ENST00000620515.1:n.105A>T
NM_000107.2:c.939A>T , LRG_467t1:c.939A>T NP_000098.1:p.Arg313=
NM_001300734.1:c.457-2509A>T NP_001287663.1:n.457-2509A>T
XR_242780.3:n.929A>T
XR_242780.4:n.929A>T
NM_000107.3:c.939A>T MANE Select NP_000098.1:p.Arg313=
NM_001300734.2:c.457-2509A>T NP_001287663.1:n.457-2509A>T
NM_001399874.1:c.939A>T NP_001386803.1:p.Arg313=
NM_001399875.1:c.939A>T NP_001386804.1:p.Arg313=
NM_001399876.1:c.457-2509A>T NP_001386805.1:n.457-2509A>T
NM_001399878.1:c.747A>T NP_001386807.1:p.Arg249=
NR_174610.1:n.1190A>T
NR_174611.1:n.1168A>T