Canonical Allele Identifier: CA380296220

Gene: DDB2

Linked Data

• ClinVar Variation Id: 2286365
• ClinVar RCV Id: RCV002845380
• dbSNP Id: rs1308275397
• gnomAD v3: 11-47234877-G-A
• gnomAD v4: 11-47234877-G-A
• MyVariant Identifiers: chr11:g.47256428G>A (hg19) ; chr11:g.47234877G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234877G>A , CM000673.2:g.47234877G>A	GRCh38
NC_000011.9:g.47256428G>A , CM000673.1:g.47256428G>A	GRCh37
NC_000011.8:g.47213004G>A	NCBI36
NG_009365.1:g.24936G>A , LRG_467:g.24936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.823G>A MANE Select	ENSP00000256996.4:p.Val275Ile
ENST00000256996.8:c.823G>A	ENSP00000256996.3:p.Val275Ile
ENST00000378600.7:c.457-2960G>A	ENSP00000367863.3:n.457-2960G>A
ENST00000378601.7:c.702+205G>A	ENSP00000367864.3:n.702+205G>A
ENST00000378603.7:c.631G>A	ENSP00000367866.3:p.Val211Ile
ENST00000612309.4:n.1937G>A
ENST00000614394.1:n.213G>A
ENST00000616278.4:c.556+205G>A	ENSP00000478411.1:n.556+205G>A
ENST00000617022.4:n.1554-2960G>A
ENST00000617847.4:c.752G>A
ENST00000620515.1:n.46+205G>A
NM_000107.2:c.823G>A , LRG_467t1:c.823G>A	NP_000098.1:p.Val275Ile
NM_001300734.1:c.457-2960G>A	NP_001287663.1:n.457-2960G>A
XR_242780.3:n.870+205G>A
XR_242780.4:n.870+205G>A
NM_000107.3:c.823G>A MANE Select	NP_000098.1:p.Val275Ile
NM_001300734.2:c.457-2960G>A	NP_001287663.1:n.457-2960G>A
NM_001399874.1:c.823G>A	NP_001386803.1:p.Val275Ile
NM_001399875.1:c.823G>A	NP_001386804.1:p.Val275Ile
NM_001399876.1:c.457-2960G>A	NP_001386805.1:n.457-2960G>A
NM_001399878.1:c.631G>A	NP_001386807.1:p.Val211Ile
NR_174610.1:n.1131+205G>A
NR_174611.1:n.1109+1G>A