Canonical Allele Identifier: CA128599
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 29730
dbSNP Id: rs387906636

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13571931G>A , CM000674.2:g.13571931G>A GRCh38
NC_000012.11:g.13724865G>A , CM000674.1:g.13724865G>A GRCh37
NC_000012.10:g.13616132G>A NCBI36
NG_031854.1:g.413158C>T
NG_031854.2:g.415082C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.2044C>T MANE Select ENSP00000477455.1:p.Arg682Cys
ENST00000628166.2:n.304C>T
ENST00000637214.1:c.69+36672C>T ENSP00000489997.1:n.69+36672C>T
ENST00000609686.3:c.2044C>T ENSP00000477455.1:p.Arg682Cys
ENST00000628166.1:n.304C>T
NM_000834.3:c.2044C>T NP_000825.2:p.Arg682Cys
XM_005253351.2:c.-43-1914C>T XP_005253408.1:n.-43-1914C>T
XM_011520628.1:c.2044C>T XP_011518930.1:p.Arg682Cys
XM_011520629.1:c.2044C>T XP_011518931.1:p.Arg682Cys
XM_011520630.1:c.2044C>T XP_011518932.1:p.Arg682Cys
NM_000834.4:c.2044C>T NP_000825.2:p.Arg682Cys
XM_005253351.3:c.-43-1914C>T XP_005253408.1:n.-43-1914C>T
XM_011520628.2:c.2044C>T XP_011518930.1:p.Arg682Cys
XM_011520629.2:c.2044C>T XP_011518931.1:p.Arg682Cys
XM_017019219.2:c.2044C>T XP_016874708.1:p.Arg682Cys
NM_000834.5:c.2044C>T MANE Select NP_000825.2:p.Arg682Cys