Canonical Allele Identifier: CA5972594

Gene: DDB2

Linked Data

• ClinVar Variation Id: 304918
• ClinVar RCV Id: RCV000359705 ; RCV002056207
• dbSNP Id: rs55847708
• ExAC: 11:47256235 G / A
• gnomAD v2: 11-47256235-G-A
• gnomAD v3: 11-47234684-G-A
• gnomAD v4: 11-47234684-G-A
• MyVariant Identifiers: chr11:g.47256235G>A (hg19) ; chr11:g.47234684G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234684G>A , CM000673.2:g.47234684G>A	GRCh38
NC_000011.9:g.47256235G>A , CM000673.1:g.47256235G>A	GRCh37
NC_000011.8:g.47212811G>A	NCBI36
NG_009365.1:g.24743G>A , LRG_467:g.24743G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.702+12G>A MANE Select	ENSP00000256996.4:n.702+12G>A
ENST00000256996.8:c.702+12G>A	ENSP00000256996.3:n.702+12G>A
ENST00000378600.7:c.457-3153G>A	ENSP00000367863.3:n.457-3153G>A
ENST00000378601.7:c.702+12G>A	ENSP00000367864.3:n.702+12G>A
ENST00000378603.7:c.510+12G>A	ENSP00000367866.3:n.510+12G>A
ENST00000612309.4:n.1816+12G>A
ENST00000614394.1:n.92+12G>A
ENST00000616278.4:c.556+12G>A	ENSP00000478411.1:n.556+12G>A
ENST00000617022.4:n.1554-3153G>A
ENST00000617847.4:c.631+12G>A
ENST00000620515.1:n.46+12G>A
NM_000107.2:c.702+12G>A , LRG_467t1:c.702+12G>A	NP_000098.1:n.702+12G>A
NM_001300734.1:c.457-3153G>A	NP_001287663.1:n.457-3153G>A
XR_242780.3:n.870+12G>A
XR_242780.4:n.870+12G>A
NM_000107.3:c.702+12G>A MANE Select	NP_000098.1:n.702+12G>A
NM_001300734.2:c.457-3153G>A	NP_001287663.1:n.457-3153G>A
NM_001399874.1:c.702+12G>A	NP_001386803.1:n.702+12G>A
NM_001399875.1:c.702+12G>A	NP_001386804.1:n.702+12G>A
NM_001399876.1:c.457-3153G>A	NP_001386805.1:n.457-3153G>A
NM_001399878.1:c.510+12G>A	NP_001386807.1:n.510+12G>A
NR_174610.1:n.1131+12G>A
NR_174611.1:n.989+12G>A