Canonical Allele Identifier: CA2017440466
Community Standard Title: NM_000834.5(GRIN2B):c.2252T= (p.Ile751=)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13569937A= , CM000674.2:g.13569937A= GRCh38
NC_000012.11:g.13722871A= , CM000674.1:g.13722871A= GRCh37
NC_000012.10:g.13614138A= NCBI36
NG_031854.1:g.415152T=
NG_031854.2:g.417076T=

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.2252T= MANE Select NP_000825.2:p.Ile751=
ENST00000609686.4:c.2252T= MANE Select ENSP00000477455.1:p.Ile751=
NM_000834.3:c.2252T= NP_000825.2:p.Ile751=
NM_000834.4:c.2252T= NP_000825.2:p.Ile751=
ENST00000609686.3:c.2252T= ENSP00000477455.1:p.Ile751=
ENST00000628166.1:n.512T=
ENST00000628166.2:n.512T=
ENST00000637214.1:c.69+38666T= ENSP00000489997.1:n.69+38666T=
XM_005253351.2:c.38T= XP_005253408.1:p.Ile13=
XM_005253351.3:c.38T= XP_005253408.1:p.Ile13=
XM_011520628.1:c.2252T= XP_011518930.1:p.Ile751=
XM_011520628.2:c.2252T= XP_011518930.1:p.Ile751=
XM_011520629.1:c.2252T= XP_011518931.1:p.Ile751=
XM_011520629.2:c.2252T= XP_011518931.1:p.Ile751=
XM_011520630.1:c.2252T= XP_011518932.1:p.Ile751=
XM_017019219.2:c.2252T= XP_016874708.1:p.Ile751=