Canonical Allele Identifier: CA677032980
Gene: DDB2 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.47215017G>C
GRCh37 chr11:g.47236568G>C
gnomAD v3:
11:47215017 G / C
gnomAD v4:
chr11-47215017-G-C
Joint Max Group AF 0.0000032 (NFE)
Exomes Max Group AF 0.00000289 (NFE)
ClinVar RCV:
RCV001104631
ClinVar Variation:
878226
dbSNP:
4647707
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Genomic Alleles

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

Transcript Alleles

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