Canonical Allele Identifier: CA6460785
Gene: GRIN2B HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.13563133C>T
GRCh37 chr12:g.13716067C>T
Revel Score:
ENST00000279593 0.045
gnomAD v2:
12:13716067 C / T
gnomAD v3:
12:13563133 C / T
gnomAD v4:
chr12-13563133-C-T
Joint Max Group AF 0.00031704 (AMR)
Genomes Max Group AF 0.00002262 (AMR)
Exomes Max Group AF 0.00038797 (AMR)
ClinVar Allele:
398860
ClinVar RCV:
RCV000462296
RCV000606845
RCV002323741
ClinVar Variation:
411106
dbSNP:
371190262
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13563133C>T , CM000674.2:g.13563133C>T GRCh38
NC_000012.11:g.13716067C>T , CM000674.1:g.13716067C>T GRCh37
NC_000012.10:g.13607334C>T NCBI36
NG_031854.1:g.421956G>A
NG_031854.2:g.423880G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.4105G>A MANE Select ENSP00000477455.1:p.Gly1369Ser
ENST00000637214.1:c.69+45470G>A ENSP00000489997.1:n.69+45470G>A
ENST00000609686.3:c.4105G>A ENSP00000477455.1:p.Gly1369Ser
ENST00000628166.1:n.2365G>A
NM_000834.3:c.4105G>A NP_000825.2:p.Gly1369Ser
XM_005253351.2:c.1891G>A XP_005253408.1:p.Gly631Ser
XM_011520628.1:c.4105G>A XP_011518930.1:p.Gly1369Ser
XM_011520629.1:c.4105G>A XP_011518931.1:p.Gly1369Ser
XM_011520630.1:c.4105G>A XP_011518932.1:p.Gly1369Ser
NM_000834.4:c.4105G>A NP_000825.2:p.Gly1369Ser
XM_005253351.3:c.1891G>A XP_005253408.1:p.Gly631Ser
XM_011520628.2:c.4105G>A XP_011518930.1:p.Gly1369Ser
XM_011520629.2:c.4105G>A XP_011518931.1:p.Gly1369Ser
XM_017019219.2:c.4105G>A XP_016874708.1:p.Gly1369Ser
NM_000834.5:c.4105G>A MANE Select NP_000825.2:p.Gly1369Ser
Search 100 bp 5'
Search 100 bp 3'