Canonical Allele Identifier: CA380296438

Gene: DDB2

Linked Data

• ClinVar Variation Id: 1692152
• ClinVar RCV Id: RCV002259195
• dbSNP Id: rs2135512289
• gnomAD v4: 11-47234923-C-T
• COSMIC: COSM3869220
• MyVariant Identifiers: chr11:g.47256474C>T (hg19) ; chr11:g.47234923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234923C>T , CM000673.2:g.47234923C>T	GRCh38
NC_000011.9:g.47256474C>T , CM000673.1:g.47256474C>T	GRCh37
NC_000011.8:g.47213050C>T	NCBI36
NG_009365.1:g.24982C>T , LRG_467:g.24982C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.869C>T MANE Select	ENSP00000256996.4:p.Pro290Leu
ENST00000256996.8:c.869C>T	ENSP00000256996.3:p.Pro290Leu
ENST00000378600.7:c.457-2914C>T	ENSP00000367863.3:n.457-2914C>T
ENST00000378601.7:c.702+251C>T	ENSP00000367864.3:n.702+251C>T
ENST00000378603.7:c.677C>T	ENSP00000367866.3:p.Pro226Leu
ENST00000612309.4:n.1983C>T
ENST00000614394.1:n.259C>T
ENST00000616278.4:c.556+251C>T	ENSP00000478411.1:n.556+251C>T
ENST00000617022.4:n.1554-2914C>T
ENST00000617847.4:c.798C>T
ENST00000620515.1:n.46+251C>T
NM_000107.2:c.869C>T , LRG_467t1:c.869C>T	NP_000098.1:p.Pro290Leu
NM_001300734.1:c.457-2914C>T	NP_001287663.1:n.457-2914C>T
XR_242780.3:n.870+251C>T
XR_242780.4:n.870+251C>T
NM_000107.3:c.869C>T MANE Select	NP_000098.1:p.Pro290Leu
NM_001300734.2:c.457-2914C>T	NP_001287663.1:n.457-2914C>T
NM_001399874.1:c.869C>T	NP_001386803.1:p.Pro290Leu
NM_001399875.1:c.869C>T	NP_001386804.1:p.Pro290Leu
NM_001399876.1:c.457-2914C>T	NP_001386805.1:n.457-2914C>T
NM_001399878.1:c.677C>T	NP_001386807.1:p.Pro226Leu
NR_174610.1:n.1131+251C>T
NR_174611.1:n.1109+47C>T