Canonical Allele Identifier: CA10638708

Gene: DDB2

Linked Data

• ClinVar Variation Id: 304914
• ClinVar RCV Id: RCV000299129
• dbSNP Id: rs777159854
• gnomAD v2: 11-47236632-A-G
• gnomAD v3: 11-47215081-A-G
• gnomAD v4: 11-47215081-A-G
• MyVariant Identifiers: chr11:g.47236632A>G (hg19) ; chr11:g.47215081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47215081A>G , CM000673.2:g.47215081A>G	GRCh38
NC_000011.9:g.47236632A>G , CM000673.1:g.47236632A>G	GRCh37
NC_000011.8:g.47193208A>G	NCBI36
NG_009365.1:g.5140A>G , LRG_467:g.5140A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000256996.9:c.-56A>G MANE Select	ENSP00000256996.4:n.-56A>G
ENST00000256996.8:c.-56A>G	ENSP00000256996.3:n.-56A>G
ENST00000378601.7:c.-56A>G	ENSP00000367864.3:n.-56A>G
ENST00000614825.4:c.-56A>G	ENSP00000483718.1:n.-56A>G
ENST00000615695.1:n.24A>G
ENST00000622090.4:c.-56A>G	ENSP00000479994.1:n.-56A>G
ENST00000622878.4:c.-56A>G	ENSP00000479196.1:n.-56A>G
NM_000107.2:c.-56A>G , LRG_467t1:c.-56A>G	NP_000098.1:n.-56A>G
NM_001300734.1:c.-56A>G	NP_001287663.1:n.-56A>G
XR_242780.3:n.113A>G
XR_242780.4:n.113A>G
NM_000107.3:c.-56A>G MANE Select	NP_000098.1:n.-56A>G
NM_001300734.2:c.-56A>G	NP_001287663.1:n.-56A>G
NM_001399874.1:c.-56A>G	NP_001386803.1:n.-56A>G
NM_001399875.1:c.-56A>G	NP_001386804.1:n.-56A>G
NM_001399876.1:c.-56A>G	NP_001386805.1:n.-56A>G
NM_001399878.1:c.-56A>G	NP_001386807.1:n.-56A>G
NR_174610.1:n.232A>G
NR_174611.1:n.232A>G