Canonical Allele Identifier: CA474229192
Gene: DDB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47256882T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47235331T>G , CM000673.2:g.47235331T>G GRCh38
NC_000011.9:g.47256882T>G , CM000673.1:g.47256882T>G GRCh37
NC_000011.8:g.47213458T>G NCBI36
NG_009365.1:g.25390T>G , LRG_467:g.25390T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.942T>G MANE Select ENSP00000256996.4:p.Val314=
ENST00000256996.8:c.942T>G ENSP00000256996.3:p.Val314=
ENST00000378600.7:c.457-2506T>G ENSP00000367863.3:n.457-2506T>G
ENST00000378601.7:c.*29T>G ENSP00000367864.3:n.*29T>G
ENST00000378603.7:c.750T>G ENSP00000367866.3:p.Val250=
ENST00000612309.4:n.2391T>G
ENST00000614394.1:n.332T>G
ENST00000616278.4:c.618T>G ENSP00000478411.1:n.618T>G
ENST00000617022.4:n.1554-2506T>G
ENST00000617847.4:c.871T>G
ENST00000620515.1:n.108T>G
NM_000107.2:c.942T>G , LRG_467t1:c.942T>G NP_000098.1:p.Val314=
NM_001300734.1:c.457-2506T>G NP_001287663.1:n.457-2506T>G
XR_242780.3:n.932T>G
XR_242780.4:n.932T>G
NM_000107.3:c.942T>G MANE Select NP_000098.1:p.Val314=
NM_001300734.2:c.457-2506T>G NP_001287663.1:n.457-2506T>G
NM_001399874.1:c.942T>G NP_001386803.1:p.Val314=
NM_001399875.1:c.942T>G NP_001386804.1:p.Val314=
NM_001399876.1:c.457-2506T>G NP_001386805.1:n.457-2506T>G
NM_001399878.1:c.750T>G NP_001386807.1:p.Val250=
NR_174610.1:n.1193T>G
NR_174611.1:n.1171T>G