Canonical Allele Identifier: CA10641392
Gene: GRIN2B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.13562374A>C
GRCh37 chr12:g.13715308A>C
gnomAD v2:
12:13715308 A / C
gnomAD v3:
12:13562374 A / C
gnomAD v4:
chr12-13562374-A-C
Joint Max Group AF 0.54212378 (MID)
Genomes Max Group AF 0.5082751 (NFE)
Exomes Max Group AF 0.47829733 (AMR)
ClinVar RCV:
RCV001693667
ClinVar Variation:
1281683
dbSNP:
890
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13562374A>C , CM000674.2:g.13562374A>C GRCh38
NC_000012.11:g.13715308A>C , CM000674.1:g.13715308A>C GRCh37
NC_000012.10:g.13606575A>C NCBI36
NG_031854.1:g.422715T>G
NG_031854.2:g.424639T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.*409T>G MANE Select ENSP00000477455.1:n.*409T>G
ENST00000637214.1:c.69+46229T>G ENSP00000489997.1:n.69+46229T>G
ENST00000609686.3:c.*409T>G ENSP00000477455.1:n.*409T>G
NM_000834.3:c.*409T>G NP_000825.2:n.*409T>G
XM_005253351.2:c.*409T>G XP_005253408.1:n.*409T>G
XM_011520628.1:c.*409T>G XP_011518930.1:n.*409T>G
XM_011520629.1:c.*409T>G XP_011518931.1:n.*409T>G
XM_011520630.1:c.*409T>G XP_011518932.1:n.*409T>G
NM_000834.4:c.*409T>G NP_000825.2:n.*409T>G
XM_005253351.3:c.*409T>G XP_005253408.1:n.*409T>G
XM_011520628.2:c.*409T>G XP_011518930.1:n.*409T>G
XM_011520629.2:c.*409T>G XP_011518931.1:n.*409T>G
XM_017019219.2:c.*409T>G XP_016874708.1:n.*409T>G
NM_000834.5:c.*409T>G MANE Select NP_000825.2:n.*409T>G
Search 100 bp 5'
Search 100 bp 3'