Canonical Allele Identifier: CA13429183
Gene: DRD2 HGNC NCBI
gnomAD v2:
11:113281776 A / C
gnomAD v3:
11:113411054 A / C
gnomAD v4:
chr11-113411054-A-C
Joint Max Group AF 0.70296594 (NFE)
Genomes Max Group AF 0.69428101 (NFE)
Exomes Max Group AF 0.70350472 (NFE)
ClinVar RCV:
RCV001639037
ClinVar Variation:
1238634
dbSNP:
2734841
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113411054A>C , CM000673.2:g.113411054A>C GRCh38
NC_000011.9:g.113281776A>C , CM000673.1:g.113281776A>C GRCh37
NC_000011.8:g.112786986A>C NCBI36
NG_008841.1:g.69226T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.1139-134T>G MANE Select ENSP00000354859.3:n.1139-134T>G
ENST00000346454.7:c.1052-134T>G ENSP00000278597.5:n.1052-134T>G
ENST00000362072.7:c.1139-134T>G ENSP00000354859.3:n.1139-134T>G
ENST00000538967.5:c.1145-134T>G ENSP00000438215.1:n.1145-134T>G
ENST00000542968.5:c.1139-134T>G ENSP00000442172.1:n.1139-134T>G
ENST00000544518.5:c.1136-134T>G ENSP00000441068.1:n.1136-134T>G
NM_000795.3:c.1139-134T>G NP_000786.1:n.1139-134T>G
NM_016574.3:c.1052-134T>G NP_057658.2:n.1052-134T>G
XM_017017296.2:c.1139-134T>G XP_016872785.1:n.1139-134T>G
NM_000795.4:c.1139-134T>G MANE Select NP_000786.1:n.1139-134T>G
NM_016574.4:c.1052-134T>G NP_057658.2:n.1052-134T>G
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