Canonical Allele Identifier: CA2695216106
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13753506_13753526del , CM000674.2:g.13753506_13753526del GRCh38
NC_000012.11:g.13906440_13906460del , CM000674.1:g.13906440_13906460del GRCh37
NC_000012.10:g.13797707_13797727del NCBI36
NG_031854.1:g.231566_231586del
NG_031854.2:g.233490_233510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.804_824del MANE Select ENSP00000477455.1:p.Val269_Thr275del
ENST00000630791.2:c.804_824del ENSP00000486677.2:p.Val269_Thr275del
ENST00000609686.3:c.804_824del ENSP00000477455.1:p.Val269_Thr275del
NM_000834.3:c.804_824del NP_000825.2:p.Val269_Thr275del
XM_011520628.1:c.804_824del XP_011518930.1:p.Val269_Thr275del
XM_011520629.1:c.804_824del XP_011518931.1:p.Val269_Thr275del
XM_011520630.1:c.804_824del XP_011518932.1:p.Val269_Thr275del
NM_000834.4:c.804_824del NP_000825.2:p.Val269_Thr275del
XM_011520628.2:c.804_824del XP_011518930.1:p.Val269_Thr275del
XM_011520629.2:c.804_824del XP_011518931.1:p.Val269_Thr275del
XM_017019219.2:c.804_824del XP_016874708.1:p.Val269_Thr275del
NM_000834.5:c.804_824del MANE Select NP_000825.2:p.Val269_Thr275del