Canonical Allele Identifier: CA1969296584

Gene: DDB2

Linked Data

• dbSNP Id: rs1953701400
• gnomAD v4: 11-47234851-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47234852_47234853del , CM000673.2:g.47234852_47234853del	GRCh38
NC_000011.9:g.47256403_47256404del , CM000673.1:g.47256403_47256404del	GRCh37
NC_000011.8:g.47212979_47212980del	NCBI36
NG_009365.1:g.24911_24912del , LRG_467:g.24911_24912del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.798_799del MANE Select	ENSP00000256996.4:p.Val267GlufsTer9
ENST00000256996.8:c.798_799del	ENSP00000256996.3:p.Val267GlufsTer9
ENST00000378600.7:c.457-2985_457-2984del	ENSP00000367863.3:n.457-2985_457-2984del
ENST00000378601.7:c.702+180_702+181del	ENSP00000367864.3:n.702+180_702+181del
ENST00000378603.7:c.606_607del	ENSP00000367866.3:p.Val203GlufsTer9
ENST00000612309.4:n.1912_1913del
ENST00000614394.1:n.188_189del
ENST00000616278.4:c.556+180_556+181del	ENSP00000478411.1:n.556+180_556+181del
ENST00000617022.4:n.1554-2985_1554-2984del
ENST00000617847.4:c.727_728del
ENST00000620515.1:n.46+180_46+181del
NM_000107.2:c.798_799del , LRG_467t1:c.798_799del	NP_000098.1:p.Val267GlufsTer9
NM_001300734.1:c.457-2985_457-2984del	NP_001287663.1:n.457-2985_457-2984del
XR_242780.3:n.870+180_870+181del
XR_242780.4:n.870+180_870+181del
NM_000107.3:c.798_799del MANE Select	NP_000098.1:p.Val267GlufsTer9
NM_001300734.2:c.457-2985_457-2984del	NP_001287663.1:n.457-2985_457-2984del
NM_001399874.1:c.798_799del	NP_001386803.1:p.Val267GlufsTer9
NM_001399875.1:c.798_799del	NP_001386804.1:p.Val267GlufsTer9
NM_001399876.1:c.457-2985_457-2984del	NP_001386805.1:n.457-2985_457-2984del
NM_001399878.1:c.606_607del	NP_001386807.1:p.Val203GlufsTer9
NR_174610.1:n.1131+180_1131+181del
NR_174611.1:n.1085_1086del