Canonical Allele Identifier: CA474228825
Gene: DDB2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.47256822T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.47235271T>G , CM000673.2:g.47235271T>G GRCh38
NC_000011.9:g.47256822T>G , CM000673.1:g.47256822T>G GRCh37
NC_000011.8:g.47213398T>G NCBI36
NG_009365.1:g.25330T>G , LRG_467:g.25330T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000256996.9:c.882T>G MANE Select ENSP00000256996.4:p.Ala294=
ENST00000256996.8:c.882T>G ENSP00000256996.3:p.Ala294=
ENST00000378600.7:c.457-2566T>G ENSP00000367863.3:n.457-2566T>G
ENST00000378601.7:c.704T>G ENSP00000367864.3:p.Leu235Arg
ENST00000378603.7:c.690T>G ENSP00000367866.3:p.Ala230=
ENST00000612309.4:n.2331T>G
ENST00000614394.1:n.272T>G
ENST00000616278.4:c.558T>G ENSP00000478411.1:n.558T>G
ENST00000617022.4:n.1554-2566T>G
ENST00000617847.4:c.811T>G
ENST00000620515.1:n.48T>G
NM_000107.2:c.882T>G , LRG_467t1:c.882T>G NP_000098.1:p.Ala294=
NM_001300734.1:c.457-2566T>G NP_001287663.1:n.457-2566T>G
XR_242780.3:n.872T>G
XR_242780.4:n.872T>G
NM_000107.3:c.882T>G MANE Select NP_000098.1:p.Ala294=
NM_001300734.2:c.457-2566T>G NP_001287663.1:n.457-2566T>G
NM_001399874.1:c.882T>G NP_001386803.1:p.Ala294=
NM_001399875.1:c.882T>G NP_001386804.1:p.Ala294=
NM_001399876.1:c.457-2566T>G NP_001386805.1:n.457-2566T>G
NM_001399878.1:c.690T>G NP_001386807.1:p.Ala230=
NR_174610.1:n.1133T>G
NR_174611.1:n.1111T>G