Canonical Allele Identifier: CA478848587

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1125351
• ClinVar RCV Id: RCV001457048
• dbSNP Id: rs2136405464
• gnomAD v4: 12-13564148-G-T
• MyVariant Identifiers: chr12:g.13717082G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564148G>T , CM000674.2:g.13564148G>T	GRCh38
NC_000012.11:g.13717082G>T , CM000674.1:g.13717082G>T	GRCh37
NC_000012.10:g.13608349G>T	NCBI36
NG_031854.1:g.420941C>A
NG_031854.2:g.422865C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.3090C>A MANE Select	ENSP00000477455.1:p.Ser1030=
ENST00000637214.1:c.69+44455C>A	ENSP00000489997.1:n.69+44455C>A
ENST00000609686.3:c.3090C>A	ENSP00000477455.1:p.Ser1030=
ENST00000628166.1:n.1350C>A
NM_000834.3:c.3090C>A	NP_000825.2:p.Ser1030=
XM_005253351.2:c.876C>A	XP_005253408.1:p.Ser292=
XM_011520628.1:c.3090C>A	XP_011518930.1:p.Ser1030=
XM_011520629.1:c.3090C>A	XP_011518931.1:p.Ser1030=
XM_011520630.1:c.3090C>A	XP_011518932.1:p.Ser1030=
NM_000834.4:c.3090C>A	NP_000825.2:p.Ser1030=
XM_005253351.3:c.876C>A	XP_005253408.1:p.Ser292=
XM_011520628.2:c.3090C>A	XP_011518930.1:p.Ser1030=
XM_011520629.2:c.3090C>A	XP_011518931.1:p.Ser1030=
XM_017019219.2:c.3090C>A	XP_016874708.1:p.Ser1030=
NM_000834.5:c.3090C>A MANE Select	NP_000825.2:p.Ser1030=