Canonical Allele Identifier: CA6281229
Gene: DRD2 HGNC NCBI
COSMIC:
COSM4986816 (not active)
COSM4986817 (not active)
MyVariant.info:
GRCh38 chr11:g.113412766G>A
GRCh37 chr11:g.113283488G>A
Revel Score:
ENST00000355319 0.053
ENST00000346454 0.053
ENST00000362072 (MANE Select) 0.053
ENST00000544518 0.053
ENST00000542968 0.053
ENST00000538967 0.053
gnomAD v2:
11:113283488 G / A
gnomAD v3:
11:113412766 G / A
gnomAD v4:
chr11-113412766-G-A
Joint Max Group AF 0.02415352 (MID)
Genomes Max Group AF 0.00102192 (NFE)
Exomes Max Group AF 0.02391743 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.113412766G>A , CM000673.2:g.113412766G>A GRCh38
NC_000011.9:g.113283488G>A , CM000673.1:g.113283488G>A GRCh37
NC_000011.8:g.112788698G>A NCBI36
NG_008841.1:g.67514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000362072.8:c.928C>T MANE Select ENSP00000354859.3:p.Pro310Ser
ENST00000346454.7:c.841C>T ENSP00000278597.5:p.Pro281Ser
ENST00000362072.7:c.928C>T ENSP00000354859.3:p.Pro310Ser
ENST00000538967.5:c.934C>T ENSP00000438215.1:p.Pro312Ser
ENST00000542968.5:c.928C>T ENSP00000442172.1:p.Pro310Ser
ENST00000544518.5:c.925C>T ENSP00000441068.1:p.Pro309Ser
NM_000795.3:c.928C>T NP_000786.1:p.Pro310Ser
NM_016574.3:c.841C>T NP_057658.2:p.Pro281Ser
XM_017017296.2:c.928C>T XP_016872785.1:p.Pro310Ser
NM_000795.4:c.928C>T MANE Select NP_000786.1:p.Pro310Ser
NM_016574.4:c.841C>T NP_057658.2:p.Pro281Ser
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