Canonical Allele Identifier: CA2613377087

Gene: DDB2

Linked Data

• gnomAD v4: 11-47234879-T-TAG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234882_47234883dup , CM000673.2:g.47234882_47234883dup	GRCh38
NC_000011.9:g.47256433_47256434dup , CM000673.1:g.47256433_47256434dup	GRCh37
NC_000011.8:g.47213009_47213010dup	NCBI36
NG_009365.1:g.24941_24942dup , LRG_467:g.24941_24942dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000256996.9:c.828_829dup MANE Select	ENSP00000256996.4:p.Gly277GlufsTer29
ENST00000256996.8:c.828_829dup	ENSP00000256996.3:p.Gly277GlufsTer29
ENST00000378600.7:c.457-2955_457-2954dup	ENSP00000367863.3:n.457-2955_457-2954dup
ENST00000378601.7:c.702+210_702+211dup	ENSP00000367864.3:n.702+210_702+211dup
ENST00000378603.7:c.636_637dup	ENSP00000367866.3:p.Gly213GlufsTer29
ENST00000612309.4:n.1942_1943dup
ENST00000614394.1:n.218_219dup
ENST00000616278.4:c.556+210_556+211dup	ENSP00000478411.1:n.556+210_556+211dup
ENST00000617022.4:n.1554-2955_1554-2954dup
ENST00000617847.4:c.757_758dup
ENST00000620515.1:n.46+210_46+211dup
NM_000107.2:c.828_829dup , LRG_467t1:c.828_829dup	NP_000098.1:p.Gly277GlufsTer29
NM_001300734.1:c.457-2955_457-2954dup	NP_001287663.1:n.457-2955_457-2954dup
XR_242780.3:n.870+210_870+211dup
XR_242780.4:n.870+210_870+211dup
NM_000107.3:c.828_829dup MANE Select	NP_000098.1:p.Gly277GlufsTer29
NM_001300734.2:c.457-2955_457-2954dup	NP_001287663.1:n.457-2955_457-2954dup
NM_001399874.1:c.828_829dup	NP_001386803.1:p.Gly277GlufsTer29
NM_001399875.1:c.828_829dup	NP_001386804.1:p.Gly277GlufsTer29
NM_001399876.1:c.457-2955_457-2954dup	NP_001386805.1:n.457-2955_457-2954dup
NM_001399878.1:c.636_637dup	NP_001386807.1:p.Gly213GlufsTer29
NR_174610.1:n.1131+210_1131+211dup
NR_174611.1:n.1109+6_1109+7dup