Canonical Allele Identifier: CA2537774099
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13564166_13564167del , CM000674.2:g.13564166_13564167del GRCh38
NC_000012.11:g.13717100_13717101del , CM000674.1:g.13717100_13717101del GRCh37
NC_000012.10:g.13608367_13608368del NCBI36
NG_031854.1:g.420923_420924del
NG_031854.2:g.422847_422848del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.3072_3073del MANE Select ENSP00000477455.1:p.Ile1025ArgfsTer12
ENST00000637214.1:c.69+44437_69+44438del ENSP00000489997.1:n.69+44437_69+44438del
ENST00000609686.3:c.3072_3073del ENSP00000477455.1:p.Ile1025ArgfsTer12
ENST00000628166.1:n.1332_1333del
NM_000834.3:c.3072_3073del NP_000825.2:p.Ile1025ArgfsTer12
XM_005253351.2:c.858_859del XP_005253408.1:p.Ile287ArgfsTer12
XM_011520628.1:c.3072_3073del XP_011518930.1:p.Ile1025ArgfsTer12
XM_011520629.1:c.3072_3073del XP_011518931.1:p.Ile1025ArgfsTer12
XM_011520630.1:c.3072_3073del XP_011518932.1:p.Ile1025ArgfsTer12
NM_000834.4:c.3072_3073del NP_000825.2:p.Ile1025ArgfsTer12
XM_005253351.3:c.858_859del XP_005253408.1:p.Ile287ArgfsTer12
XM_011520628.2:c.3072_3073del XP_011518930.1:p.Ile1025ArgfsTer12
XM_011520629.2:c.3072_3073del XP_011518931.1:p.Ile1025ArgfsTer12
XM_017019219.2:c.3072_3073del XP_016874708.1:p.Ile1025ArgfsTer12
NM_000834.5:c.3072_3073del MANE Select NP_000825.2:p.Ile1025ArgfsTer12