Canonical Allele Identifier: CA380296387

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234915-C-A
• MyVariant Identifiers: chr11:g.47256466C>A (hg19) ; chr11:g.47234915C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234915C>A , CM000673.2:g.47234915C>A	GRCh38
NC_000011.9:g.47256466C>A , CM000673.1:g.47256466C>A	GRCh37
NC_000011.8:g.47213042C>A	NCBI36
NG_009365.1:g.24974C>A , LRG_467:g.24974C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.861C>A MANE Select	ENSP00000256996.4:p.His287Gln
ENST00000256996.8:c.861C>A	ENSP00000256996.3:p.His287Gln
ENST00000378600.7:c.457-2922C>A	ENSP00000367863.3:n.457-2922C>A
ENST00000378601.7:c.702+243C>A	ENSP00000367864.3:n.702+243C>A
ENST00000378603.7:c.669C>A	ENSP00000367866.3:p.His223Gln
ENST00000612309.4:n.1975C>A
ENST00000614394.1:n.251C>A
ENST00000616278.4:c.556+243C>A	ENSP00000478411.1:n.556+243C>A
ENST00000617022.4:n.1554-2922C>A
ENST00000617847.4:c.790C>A
ENST00000620515.1:n.46+243C>A
NM_000107.2:c.861C>A , LRG_467t1:c.861C>A	NP_000098.1:p.His287Gln
NM_001300734.1:c.457-2922C>A	NP_001287663.1:n.457-2922C>A
XR_242780.3:n.870+243C>A
XR_242780.4:n.870+243C>A
NM_000107.3:c.861C>A MANE Select	NP_000098.1:p.His287Gln
NM_001300734.2:c.457-2922C>A	NP_001287663.1:n.457-2922C>A
NM_001399874.1:c.861C>A	NP_001386803.1:p.His287Gln
NM_001399875.1:c.861C>A	NP_001386804.1:p.His287Gln
NM_001399876.1:c.457-2922C>A	NP_001386805.1:n.457-2922C>A
NM_001399878.1:c.669C>A	NP_001386807.1:p.His223Gln
NR_174610.1:n.1131+243C>A
NR_174611.1:n.1109+39C>A