Canonical Allele Identifier: CA383996092

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 656203
• ClinVar RCV Id: RCV000812560
• dbSNP Id: rs1591608943
• gnomAD v3: 12-13567083-C-T
• gnomAD v4: 12-13567083-C-T
• MyVariant Identifiers: chr12:g.13720017C>T (hg19) ; chr12:g.13567083C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13567083C>T , CM000674.2:g.13567083C>T	GRCh38
NC_000012.11:g.13720017C>T , CM000674.1:g.13720017C>T	GRCh37
NC_000012.10:g.13611284C>T	NCBI36
NG_031854.1:g.418006G>A
NG_031854.2:g.419930G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2540G>A MANE Select	ENSP00000477455.1:p.Arg847Gln
ENST00000637214.1:c.69+41520G>A	ENSP00000489997.1:n.69+41520G>A
ENST00000609686.3:c.2540G>A	ENSP00000477455.1:p.Arg847Gln
ENST00000628166.1:n.800G>A
NM_000834.3:c.2540G>A	NP_000825.2:p.Arg847Gln
XM_005253351.2:c.326G>A	XP_005253408.1:p.Arg109Gln
XM_011520628.1:c.2540G>A	XP_011518930.1:p.Arg847Gln
XM_011520629.1:c.2540G>A	XP_011518931.1:p.Arg847Gln
XM_011520630.1:c.2540G>A	XP_011518932.1:p.Arg847Gln
NM_000834.4:c.2540G>A	NP_000825.2:p.Arg847Gln
XM_005253351.3:c.326G>A	XP_005253408.1:p.Arg109Gln
XM_011520628.2:c.2540G>A	XP_011518930.1:p.Arg847Gln
XM_011520629.2:c.2540G>A	XP_011518931.1:p.Arg847Gln
XM_017019219.2:c.2540G>A	XP_016874708.1:p.Arg847Gln
NM_000834.5:c.2540G>A MANE Select	NP_000825.2:p.Arg847Gln