Canonical Allele Identifier: CA380296236

Gene: DDB2

Linked Data

• dbSNP Id: rs748644904
• gnomAD v2: 11-47256432-G-A
• gnomAD v3: 11-47234881-G-A
• gnomAD v4: 11-47234881-G-A
• MyVariant Identifiers: chr11:g.47256432G>A (hg19) ; chr11:g.47234881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234881G>A , CM000673.2:g.47234881G>A	GRCh38
NC_000011.9:g.47256432G>A , CM000673.1:g.47256432G>A	GRCh37
NC_000011.8:g.47213008G>A	NCBI36
NG_009365.1:g.24940G>A , LRG_467:g.24940G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.827G>A MANE Select	ENSP00000256996.4:p.Arg276Lys
ENST00000256996.8:c.827G>A	ENSP00000256996.3:p.Arg276Lys
ENST00000378600.7:c.457-2956G>A	ENSP00000367863.3:n.457-2956G>A
ENST00000378601.7:c.702+209G>A	ENSP00000367864.3:n.702+209G>A
ENST00000378603.7:c.635G>A	ENSP00000367866.3:p.Arg212Lys
ENST00000612309.4:n.1941G>A
ENST00000614394.1:n.217G>A
ENST00000616278.4:c.556+209G>A	ENSP00000478411.1:n.556+209G>A
ENST00000617022.4:n.1554-2956G>A
ENST00000617847.4:c.756G>A
ENST00000620515.1:n.46+209G>A
NM_000107.2:c.827G>A , LRG_467t1:c.827G>A	NP_000098.1:p.Arg276Lys
NM_001300734.1:c.457-2956G>A	NP_001287663.1:n.457-2956G>A
XR_242780.3:n.870+209G>A
XR_242780.4:n.870+209G>A
NM_000107.3:c.827G>A MANE Select	NP_000098.1:p.Arg276Lys
NM_001300734.2:c.457-2956G>A	NP_001287663.1:n.457-2956G>A
NM_001399874.1:c.827G>A	NP_001386803.1:p.Arg276Lys
NM_001399875.1:c.827G>A	NP_001386804.1:p.Arg276Lys
NM_001399876.1:c.457-2956G>A	NP_001386805.1:n.457-2956G>A
NM_001399878.1:c.635G>A	NP_001386807.1:p.Arg212Lys
NR_174610.1:n.1131+209G>A
NR_174611.1:n.1109+5G>A