Canonical Allele Identifier: CA5972598

Gene: DDB2

Linked Data

• dbSNP Id: rs754458845
• ExAC: 11:47256240 C / G
• gnomAD v2: 11-47256240-C-G
• gnomAD v3: 11-47234689-C-G
• gnomAD v4: 11-47234689-C-G
• MyVariant Identifiers: chr11:g.47256240C>G (hg19) ; chr11:g.47234689C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234689C>G , CM000673.2:g.47234689C>G	GRCh38
NC_000011.9:g.47256240C>G , CM000673.1:g.47256240C>G	GRCh37
NC_000011.8:g.47212816C>G	NCBI36
NG_009365.1:g.24748C>G , LRG_467:g.24748C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000256996.9:c.702+17C>G MANE Select	ENSP00000256996.4:n.702+17C>G
ENST00000256996.8:c.702+17C>G	ENSP00000256996.3:n.702+17C>G
ENST00000378600.7:c.457-3148C>G	ENSP00000367863.3:n.457-3148C>G
ENST00000378601.7:c.702+17C>G	ENSP00000367864.3:n.702+17C>G
ENST00000378603.7:c.510+17C>G	ENSP00000367866.3:n.510+17C>G
ENST00000612309.4:n.1816+17C>G
ENST00000614394.1:n.92+17C>G
ENST00000616278.4:c.556+17C>G	ENSP00000478411.1:n.556+17C>G
ENST00000617022.4:n.1554-3148C>G
ENST00000617847.4:c.631+17C>G
ENST00000620515.1:n.46+17C>G
NM_000107.2:c.702+17C>G , LRG_467t1:c.702+17C>G	NP_000098.1:n.702+17C>G
NM_001300734.1:c.457-3148C>G	NP_001287663.1:n.457-3148C>G
XR_242780.3:n.870+17C>G
XR_242780.4:n.870+17C>G
NM_000107.3:c.702+17C>G MANE Select	NP_000098.1:n.702+17C>G
NM_001300734.2:c.457-3148C>G	NP_001287663.1:n.457-3148C>G
NM_001399874.1:c.702+17C>G	NP_001386803.1:n.702+17C>G
NM_001399875.1:c.702+17C>G	NP_001386804.1:n.702+17C>G
NM_001399876.1:c.457-3148C>G	NP_001386805.1:n.457-3148C>G
NM_001399878.1:c.510+17C>G	NP_001386807.1:n.510+17C>G
NR_174610.1:n.1131+17C>G
NR_174611.1:n.989+17C>G