Canonical Allele Identifier: CA478853368

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1131683
• ClinVar RCV Id: RCV001465628
• dbSNP Id: rs1863519417
• gnomAD v4: 12-13753346-C-T
• MyVariant Identifiers: chr12:g.13906280C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753346C>T , CM000674.2:g.13753346C>T	GRCh38
NC_000012.11:g.13906280C>T , CM000674.1:g.13906280C>T	GRCh37
NC_000012.10:g.13797547C>T	NCBI36
NG_031854.1:g.231743G>A
NG_031854.2:g.233667G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.981G>A MANE Select	ENSP00000477455.1:p.Lys327=
ENST00000630791.2:c.981G>A	ENSP00000486677.2:p.Lys327=
ENST00000609686.3:c.981G>A	ENSP00000477455.1:p.Lys327=
NM_000834.3:c.981G>A	NP_000825.2:p.Lys327=
XM_011520628.1:c.981G>A	XP_011518930.1:p.Lys327=
XM_011520629.1:c.981G>A	XP_011518931.1:p.Lys327=
XM_011520630.1:c.981G>A	XP_011518932.1:p.Lys327=
NM_000834.4:c.981G>A	NP_000825.2:p.Lys327=
XM_011520628.2:c.981G>A	XP_011518930.1:p.Lys327=
XM_011520629.2:c.981G>A	XP_011518931.1:p.Lys327=
XM_017019219.2:c.981G>A	XP_016874708.1:p.Lys327=
NM_000834.5:c.981G>A MANE Select	NP_000825.2:p.Lys327=