Canonical Allele Identifier: CA3011900
Gene: GRID2 HGNC NCBI
COSMIC:
COSM1130995 (not active)
MyVariant.info:
GRCh38 chr4:g.92590245C>T
GRCh37 chr4:g.93511396C>T
Revel Score:
ENST00000282020 (MANE Select) 0.134
ENST00000510992 0.134
gnomAD v2:
4:93511396 C / T
gnomAD v3:
4:92590245 C / T
gnomAD v4:
chr4-92590245-C-T
Joint Max Group AF 0.05577169 (MID)
Genomes Max Group AF 0.04622165 (NFE)
Exomes Max Group AF 0.05430295 (MID)
ClinVar RCV:
RCV001777096
RCV003913375
ClinVar Variation:
1321117
dbSNP:
34144324
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.92590245C>T , CM000666.2:g.92590245C>T GRCh38
NC_000004.11:g.93511396C>T , CM000666.1:g.93511396C>T GRCh37
NC_000004.10:g.93730419C>T NCBI36
NG_034113.1:g.290847C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282020.9:c.203C>T MANE Select ENSP00000282020.4:p.Thr68Met
ENST00000282020.8:c.203C>T ENSP00000282020.4:p.Thr68Met
ENST00000505687.5:n.375C>T
ENST00000510992.5:c.203C>T ENSP00000421257.1:p.Thr68Met
NM_001286838.1:c.203C>T NP_001273767.1:p.Thr68Met
NM_001510.3:c.203C>T NP_001501.2:p.Thr68Met
XM_017008122.2:c.203C>T XP_016863611.1:p.Thr68Met
XM_024454024.1:c.203C>T XP_024309792.1:p.Thr68Met
NM_001510.4:c.203C>T MANE Select NP_001501.2:p.Thr68Met
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