Canonical Allele Identifier: CA10630995

Gene: DDB2

Linked Data

• ClinVar Variation Id: 304913
• ClinVar RCV Id: RCV000402377
• dbSNP Id: rs4647707
• gnomAD v2: 11-47236568-G-A
• gnomAD v3: 11-47215017-G-A
• gnomAD v4: 11-47215017-G-A
• MyVariant Identifiers: chr11:g.47236568G>A (hg19) ; chr11:g.47215017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.47215017G>A , CM000673.2:g.47215017G>A	GRCh38
NC_000011.9:g.47236568G>A , CM000673.1:g.47236568G>A	GRCh37
NC_000011.8:g.47193144G>A	NCBI36
NG_009365.1:g.5076G>A , LRG_467:g.5076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000256996.9:c.-120G>A MANE Select	ENSP00000256996.4:n.-120G>A
ENST00000256996.8:c.-120G>A	ENSP00000256996.3:n.-120G>A
ENST00000378601.7:c.-120G>A	ENSP00000367864.3:n.-120G>A
ENST00000614825.4:c.-64-56G>A	ENSP00000483718.1:n.-64-56G>A
ENST00000622878.4:c.-66-54G>A	ENSP00000479196.1:n.-66-54G>A
NM_000107.2:c.-120G>A , LRG_467t1:c.-120G>A	NP_000098.1:n.-120G>A
NM_001300734.1:c.-120G>A	NP_001287663.1:n.-120G>A
XR_242780.3:n.49G>A
XR_242780.4:n.49G>A
NM_000107.3:c.-120G>A MANE Select	NP_000098.1:n.-120G>A
NM_001300734.2:c.-120G>A	NP_001287663.1:n.-120G>A
NM_001399874.1:c.-66-54G>A	NP_001386803.1:n.-66-54G>A
NM_001399875.1:c.-64-56G>A	NP_001386804.1:n.-64-56G>A
NM_001399876.1:c.-66-54G>A	NP_001386805.1:n.-66-54G>A
NM_001399878.1:c.-120G>A	NP_001386807.1:n.-120G>A
NR_174610.1:n.222-54G>A
NR_174611.1:n.222-54G>A