Canonical Allele Identifier: CA13509989
Gene: DRD2 HGNC NCBI
gnomAD v2:
11:113296274 A / G
gnomAD v3:
11:113425552 A / G
gnomAD v4:
chr11-113425552-A-G
Joint Max Group AF 0.39993742 (EAS)
Genomes Max Group AF 0.39993742 (EAS)
ClinVar Allele:
504040
ClinVar RCV:
RCV000599725
RCV002064132
ClinVar Variation:
512982
dbSNP:
1079598
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113425552A>G , CM000673.2:g.113425552A>G GRCh38
NC_000011.9:g.113296274A>G , CM000673.1:g.113296274A>G GRCh37
NC_000011.8:g.112801484A>G NCBI36
NG_008841.1:g.54728T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.-31-870T>C MANE Select ENSP00000354859.3:n.-31-870T>C
ENST00000346454.7:c.-31-870T>C ENSP00000278597.5:n.-31-870T>C
ENST00000362072.7:c.-31-870T>C ENSP00000354859.3:n.-31-870T>C
ENST00000540600.5:n.35-870T>C
ENST00000542616.1:c.-31-870T>C ENSP00000441474.1:n.-31-870T>C
ENST00000543292.1:c.-31-870T>C ENSP00000438419.1:n.-31-870T>C
NM_000795.3:c.-31-870T>C NP_000786.1:n.-31-870T>C
NM_016574.3:c.-31-870T>C NP_057658.2:n.-31-870T>C
XM_017017296.2:c.-31-870T>C XP_016872785.1:n.-31-870T>C
NM_000795.4:c.-31-870T>C MANE Select NP_000786.1:n.-31-870T>C
NM_016574.4:c.-31-870T>C NP_057658.2:n.-31-870T>C
Search 100 bp 5'
Search 100 bp 3'