Canonical Allele Identifier: CA144605269
Gene: GRIK2 HGNC NCBI
COSMIC:
COSN14869656 (not active)
COSN20513412 (not active)
MyVariant.info:
GRCh38 chr6:g.101327270A>G
GRCh37 chr6:g.101775146A>G
gnomAD v2:
6:101775146 A / G
gnomAD v3:
6:101327270 A / G
gnomAD v4:
chr6-101327270-A-G
Joint Max Group AF 0.85030817 (EAS)
Genomes Max Group AF 0.85030817 (EAS)
dbSNP:
2518344
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.101327270A>G , CM000668.2:g.101327270A>G GRCh38
NC_000006.11:g.101775146A>G , CM000668.1:g.101775146A>G GRCh37
NC_000006.10:g.101881867A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682090.1:c.-293-71715A>G ENSP00000508130.1:n.-293-71715A>G
ENST00000683774.1:n.233-13272A>G
ENST00000421544.6:c.-293-71715A>G ENSP00000397026.1:n.-293-71715A>G
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