Canonical Allele Identifier: CA6281250
Gene: DRD2 HGNC NCBI
COSMIC:
COSM260581
MyVariant.info:
GRCh38 chr11:g.113412873C>T
GRCh37 chr11:g.113283595C>T
Revel Score:
ENST00000355319 0.085
ENST00000346454 0.085
ENST00000362072 (MANE Select) 0.085
ENST00000544518 0.085
ENST00000542968 0.085
ENST00000538967 0.085
gnomAD v2:
11:113283595 C / T
gnomAD v3:
11:113412873 C / T
gnomAD v4:
chr11-113412873-C-T
Joint Max Group AF 0.00017102 (EAS)
Genomes Max Group AF 0.000008 (AFR)
Exomes Max Group AF 0.00019288 (EAS)
ClinVar Allele:
1030045
ClinVar RCV:
RCV001351455
ClinVar Variation:
1046844
dbSNP:
200184730
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113412873C>T , CM000673.2:g.113412873C>T GRCh38
NC_000011.9:g.113283595C>T , CM000673.1:g.113283595C>T GRCh37
NC_000011.8:g.112788805C>T NCBI36
NG_008841.1:g.67407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.821G>A MANE Select ENSP00000354859.3:p.Arg274Gln
ENST00000346454.7:c.734G>A ENSP00000278597.5:p.Arg245Gln
ENST00000362072.7:c.821G>A ENSP00000354859.3:p.Arg274Gln
ENST00000538967.5:c.827G>A ENSP00000438215.1:p.Arg276Gln
ENST00000542968.5:c.821G>A ENSP00000442172.1:p.Arg274Gln
ENST00000544518.5:c.818G>A ENSP00000441068.1:p.Arg273Gln
NM_000795.3:c.821G>A NP_000786.1:p.Arg274Gln
NM_016574.3:c.734G>A NP_057658.2:p.Arg245Gln
XM_017017296.2:c.821G>A XP_016872785.1:p.Arg274Gln
NM_000795.4:c.821G>A MANE Select NP_000786.1:p.Arg274Gln
NM_016574.4:c.734G>A NP_057658.2:p.Arg245Gln
Search 100 bp 5'
Search 100 bp 3'