Canonical Allele Identifier: CA2549594199
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13564153del , CM000674.2:g.13564153del GRCh38
NC_000012.11:g.13717087del , CM000674.1:g.13717087del GRCh37
NC_000012.10:g.13608354del NCBI36
NG_031854.1:g.420936del
NG_031854.2:g.422860del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.3085del MANE Select ENSP00000477455.1:p.Ser1029ProfsTer27
ENST00000637214.1:c.69+44450del ENSP00000489997.1:n.69+44450del
ENST00000609686.3:c.3085del ENSP00000477455.1:p.Ser1029ProfsTer27
ENST00000628166.1:n.1345del
NM_000834.3:c.3085del NP_000825.2:p.Ser1029ProfsTer27
XM_005253351.2:c.871del XP_005253408.1:p.Ser291ProfsTer27
XM_011520628.1:c.3085del XP_011518930.1:p.Ser1029ProfsTer27
XM_011520629.1:c.3085del XP_011518931.1:p.Ser1029ProfsTer27
XM_011520630.1:c.3085del XP_011518932.1:p.Ser1029ProfsTer27
NM_000834.4:c.3085del NP_000825.2:p.Ser1029ProfsTer27
XM_005253351.3:c.871del XP_005253408.1:p.Ser291ProfsTer27
XM_011520628.2:c.3085del XP_011518930.1:p.Ser1029ProfsTer27
XM_011520629.2:c.3085del XP_011518931.1:p.Ser1029ProfsTer27
XM_017019219.2:c.3085del XP_016874708.1:p.Ser1029ProfsTer27
NM_000834.5:c.3085del MANE Select NP_000825.2:p.Ser1029ProfsTer27