Canonical Allele Identifier: CA170088
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 143189
ClinVar RCV Id: RCV000132723
dbSNP Id: rs527236034

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13616545T>C , CM000674.2:g.13616545T>C GRCh38
NC_000012.11:g.13769479T>C , CM000674.1:g.13769479T>C GRCh37
NC_000012.10:g.13660746T>C NCBI36
NG_031854.1:g.368544A>G
NG_031854.2:g.370468A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.1238A>G MANE Select ENSP00000477455.1:p.Glu413Gly
ENST00000630791.2:c.1238A>G ENSP00000486677.2:p.Glu413Gly
ENST00000609686.3:c.1238A>G ENSP00000477455.1:p.Glu413Gly
NM_000834.3:c.1238A>G NP_000825.2:p.Glu413Gly
XM_011520628.1:c.1238A>G XP_011518930.1:p.Glu413Gly
XM_011520629.1:c.1238A>G XP_011518931.1:p.Glu413Gly
XM_011520630.1:c.1238A>G XP_011518932.1:p.Glu413Gly
XR_931372.1:n.307+1319T>C
XR_931373.1:n.447+1319T>C
XR_931374.1:n.246+1319T>C
NM_000834.4:c.1238A>G NP_000825.2:p.Glu413Gly
XM_011520628.2:c.1238A>G XP_011518930.1:p.Glu413Gly
XM_011520629.2:c.1238A>G XP_011518931.1:p.Glu413Gly
XM_017019219.2:c.1238A>G XP_016874708.1:p.Glu413Gly
XR_001749013.1:n.728+1319T>C
XR_931372.2:n.444+1319T>C
XR_931373.2:n.586+1319T>C
NM_000834.5:c.1238A>G MANE Select NP_000825.2:p.Glu413Gly