Canonical Allele Identifier: CA15703245
Gene: DRD2 HGNC NCBI
gnomAD v2:
11:113282295 T / G
gnomAD v3:
11:113411573 T / G
gnomAD v4:
chr11-113411573-T-G
Joint Max Group AF 0.69412926 (NFE)
Genomes Max Group AF 0.69422037 (NFE)
Exomes Max Group AF 0.58905442 (NFE)
ClinVar Allele:
1642550
ClinVar RCV:
RCV002179129
ClinVar Variation:
1662326
dbSNP:
1124493
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113411573T>G , CM000673.2:g.113411573T>G GRCh38
NC_000011.9:g.113282295T>G , CM000673.1:g.113282295T>G GRCh37
NC_000011.8:g.112787505T>G NCBI36
NG_008841.1:g.68707A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.1139-653A>C MANE Select ENSP00000354859.3:n.1139-653A>C
ENST00000346454.7:c.1052-653A>C ENSP00000278597.5:n.1052-653A>C
ENST00000362072.7:c.1139-653A>C ENSP00000354859.3:n.1139-653A>C
ENST00000538967.5:c.1145-653A>C ENSP00000438215.1:n.1145-653A>C
ENST00000542968.5:c.1139-653A>C ENSP00000442172.1:n.1139-653A>C
ENST00000544518.5:c.1136-653A>C ENSP00000441068.1:n.1136-653A>C
NM_000795.3:c.1139-653A>C NP_000786.1:n.1139-653A>C
NM_016574.3:c.1052-653A>C NP_057658.2:n.1052-653A>C
XM_017017296.2:c.1139-653A>C XP_016872785.1:n.1139-653A>C
NM_000795.4:c.1139-653A>C MANE Select NP_000786.1:n.1139-653A>C
NM_016574.4:c.1052-653A>C NP_057658.2:n.1052-653A>C
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