Canonical Allele Identifier: CA130438
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 39660
dbSNP Id: rs398122825

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13611828C>T , CM000674.2:g.13611828C>T GRCh38
NC_000012.11:g.13764762C>T , CM000674.1:g.13764762C>T GRCh37
NC_000012.10:g.13656029C>T NCBI36
NG_031854.1:g.373261G>A
NG_031854.2:g.375185G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.1677G>A MANE Select ENSP00000477455.1:p.Trp559Ter
ENST00000609686.3:c.1677G>A ENSP00000477455.1:p.Trp559Ter
NM_000834.3:c.1677G>A NP_000825.2:p.Trp559Ter
XM_011520628.1:c.1677G>A XP_011518930.1:p.Trp559Ter
XM_011520629.1:c.1677G>A XP_011518931.1:p.Trp559Ter
XM_011520630.1:c.1677G>A XP_011518932.1:p.Trp559Ter
XR_931372.1:n.179-3270C>T
XR_931373.1:n.318+3071C>T
XR_931374.1:n.117+1228C>T
NM_000834.4:c.1677G>A NP_000825.2:p.Trp559Ter
XM_011520628.2:c.1677G>A XP_011518930.1:p.Trp559Ter
XM_011520629.2:c.1677G>A XP_011518931.1:p.Trp559Ter
XM_017019219.2:c.1677G>A XP_016874708.1:p.Trp559Ter
XR_001749013.1:n.599+1228C>T
XR_931372.2:n.316-3270C>T
XR_931373.2:n.457+3071C>T
NM_000834.5:c.1677G>A MANE Select NP_000825.2:p.Trp559Ter