Canonical Allele Identifier: CA599064544

Gene: DDB2

Linked Data

• dbSNP Id: rs1249483402
• gnomAD v2: 11-47257086-G-C
• gnomAD v4: 11-47235535-G-C
• MyVariant Identifiers: chr11:g.47257086G>C (hg19) ; chr11:g.47235535G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47235535G>C , CM000673.2:g.47235535G>C	GRCh38
NC_000011.9:g.47257086G>C , CM000673.1:g.47257086G>C	GRCh37
NC_000011.8:g.47213662G>C	NCBI36
NG_009365.1:g.25594G>C , LRG_467:g.25594G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.1023+123G>C MANE Select	ENSP00000256996.4:n.1023+123G>C
ENST00000256996.8:c.1023+123G>C	ENSP00000256996.3:n.1023+123G>C
ENST00000378600.7:c.457-2302G>C	ENSP00000367863.3:n.457-2302G>C
ENST00000378601.7:c.*110+123G>C	ENSP00000367864.3:n.*110+123G>C
ENST00000378603.7:c.831+123G>C	ENSP00000367866.3:n.831+123G>C
ENST00000612309.4:n.2472+123G>C
ENST00000614394.1:n.536G>C
ENST00000616278.4:c.699+123G>C	ENSP00000478411.1:n.699+123G>C
ENST00000617022.4:n.1554-2302G>C
ENST00000617847.4:c.952+123G>C
ENST00000620515.1:n.189+123G>C
NM_000107.2:c.1023+123G>C , LRG_467t1:c.1023+123G>C	NP_000098.1:n.1023+123G>C
NM_001300734.1:c.457-2302G>C	NP_001287663.1:n.457-2302G>C
XR_242780.3:n.1013+123G>C
XR_242780.4:n.1013+123G>C
NM_000107.3:c.1023+123G>C MANE Select	NP_000098.1:n.1023+123G>C
NM_001300734.2:c.457-2302G>C	NP_001287663.1:n.457-2302G>C
NM_001399874.1:c.1023+123G>C	NP_001386803.1:n.1023+123G>C
NM_001399875.1:c.1023+123G>C	NP_001386804.1:n.1023+123G>C
NM_001399876.1:c.457-2302G>C	NP_001386805.1:n.457-2302G>C
NM_001399878.1:c.831+123G>C	NP_001386807.1:n.831+123G>C
NR_174610.1:n.1274+123G>C
NR_174611.1:n.1252+123G>C