Canonical Allele Identifier: CA6281226
Gene: DRD2 HGNC NCBI
ClinVar RCV:
RCV000250604
RCV000537533
RCV001668447
ClinVar Variation:
256813
dbSNP:
1801028
gnomAD v2:
11:113283484 G / C
gnomAD v3:
11:113412762 G / C
gnomAD v4:
chr11-113412762-G-C
Joint Max Group AF 0.05798476 (SAS)
Genomes Max Group AF 0.05894432 (SAS)
Exomes Max Group AF 0.05764241 (SAS)
MyVariant.info:
GRCh38 chr11:g.113412762G>C
GRCh37 chr11:g.113283484G>C
Revel Score:
ENST00000355319 0.230
ENST00000346454 0.230
ENST00000362072 (MANE Select) 0.230
ENST00000544518 0.230
ENST00000542968 0.230
ENST00000538967 0.230
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113412762G>C , CM000673.2:g.113412762G>C GRCh38
NC_000011.9:g.113283484G>C , CM000673.1:g.113283484G>C GRCh37
NC_000011.8:g.112788694G>C NCBI36
NG_008841.1:g.67518C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.932C>G MANE Select ENSP00000354859.3:p.Ser311Cys
ENST00000346454.7:c.845C>G ENSP00000278597.5:p.Ser282Cys
ENST00000362072.7:c.932C>G ENSP00000354859.3:p.Ser311Cys
ENST00000538967.5:c.938C>G ENSP00000438215.1:p.Ser313Cys
ENST00000542968.5:c.932C>G ENSP00000442172.1:p.Ser311Cys
ENST00000544518.5:c.929C>G ENSP00000441068.1:p.Ser310Cys
NM_000795.3:c.932C>G NP_000786.1:p.Ser311Cys
NM_016574.3:c.845C>G NP_057658.2:p.Ser282Cys
XM_017017296.2:c.932C>G XP_016872785.1:p.Ser311Cys
NM_000795.4:c.932C>G MANE Select NP_000786.1:p.Ser311Cys
NM_016574.4:c.845C>G NP_057658.2:p.Ser282Cys
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