Canonical Allele Identifier: CA380297205

Gene: DDB2

Linked Data

• gnomAD v4: 11-47235401-A-C
• COSMIC: COSM70414
• MyVariant Identifiers: chr11:g.47256952A>C (hg19) ; chr11:g.47235401A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235401A>C , CM000673.2:g.47235401A>C	GRCh38
NC_000011.9:g.47256952A>C , CM000673.1:g.47256952A>C	GRCh37
NC_000011.8:g.47213528A>C	NCBI36
NG_009365.1:g.25460A>C , LRG_467:g.25460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1012A>C MANE Select	ENSP00000256996.4:p.Thr338Pro
ENST00000256996.8:c.1012A>C	ENSP00000256996.3:p.Thr338Pro
ENST00000378600.7:c.457-2436A>C	ENSP00000367863.3:n.457-2436A>C
ENST00000378601.7:c.*99A>C	ENSP00000367864.3:n.*99A>C
ENST00000378603.7:c.820A>C	ENSP00000367866.3:p.Thr274Pro
ENST00000612309.4:n.2461A>C
ENST00000614394.1:n.402A>C
ENST00000616278.4:c.688A>C	ENSP00000478411.1:n.688A>C
ENST00000617022.4:n.1554-2436A>C
ENST00000617847.4:c.941A>C
ENST00000620515.1:n.178A>C
NM_000107.2:c.1012A>C , LRG_467t1:c.1012A>C	NP_000098.1:p.Thr338Pro
NM_001300734.1:c.457-2436A>C	NP_001287663.1:n.457-2436A>C
XR_242780.3:n.1002A>C
XR_242780.4:n.1002A>C
NM_000107.3:c.1012A>C MANE Select	NP_000098.1:p.Thr338Pro
NM_001300734.2:c.457-2436A>C	NP_001287663.1:n.457-2436A>C
NM_001399874.1:c.1012A>C	NP_001386803.1:p.Thr338Pro
NM_001399875.1:c.1012A>C	NP_001386804.1:p.Thr338Pro
NM_001399876.1:c.457-2436A>C	NP_001386805.1:n.457-2436A>C
NM_001399878.1:c.820A>C	NP_001386807.1:p.Thr274Pro
NR_174610.1:n.1263A>C
NR_174611.1:n.1241A>C