Canonical Allele Identifier: CA13429182
Gene: DRD2 HGNC NCBI
gnomAD v2:
11:113281397 C / T
gnomAD v3:
11:113410675 C / T
gnomAD v4:
chr11-113410675-C-T
Joint Max Group AF 0.70411615 (NFE)
Genomes Max Group AF 0.69316303 (NFE)
Exomes Max Group AF 0.70450363 (NFE)
ClinVar RCV:
RCV001692907
ClinVar Variation:
1277750
dbSNP:
6276
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113410675C>T , CM000673.2:g.113410675C>T GRCh38
NC_000011.9:g.113281397C>T , CM000673.1:g.113281397C>T GRCh37
NC_000011.8:g.112786607C>T NCBI36
NG_008841.1:g.69605G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.*52G>A MANE Select ENSP00000354859.3:n.*52G>A
ENST00000346454.7:c.*52G>A ENSP00000278597.5:n.*52G>A
ENST00000362072.7:c.*52G>A ENSP00000354859.3:n.*52G>A
ENST00000538967.5:c.1390G>A ENSP00000438215.1:n.1390G>A
ENST00000542968.5:c.*52G>A ENSP00000442172.1:n.*52G>A
ENST00000544518.5:c.*52G>A ENSP00000441068.1:n.*52G>A
NM_000795.3:c.*52G>A NP_000786.1:n.*52G>A
NM_016574.3:c.*52G>A NP_057658.2:n.*52G>A
XM_017017296.2:c.*52G>A XP_016872785.1:n.*52G>A
NM_000795.4:c.*52G>A MANE Select NP_000786.1:n.*52G>A
NM_016574.4:c.*52G>A NP_057658.2:n.*52G>A
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