Canonical Allele Identifier: CA383986051

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1580621
• ClinVar RCV Id: RCV002094869 ; RCV003222389
• dbSNP Id: rs1349506481
• gnomAD v3: 12-13563033-T-C
• gnomAD v4: 12-13563033-T-C
• MyVariant Identifiers: chr12:g.13715967T>C (hg19) ; chr12:g.13563033T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13563033T>C , CM000674.2:g.13563033T>C	GRCh38
NC_000012.11:g.13715967T>C , CM000674.1:g.13715967T>C	GRCh37
NC_000012.10:g.13607234T>C	NCBI36
NG_031854.1:g.422056A>G
NG_031854.2:g.423980A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.4205A>G MANE Select	ENSP00000477455.1:p.Lys1402Arg
ENST00000637214.1:c.69+45570A>G	ENSP00000489997.1:n.69+45570A>G
ENST00000609686.3:c.4205A>G	ENSP00000477455.1:p.Lys1402Arg
ENST00000628166.1:n.2465A>G
NM_000834.3:c.4205A>G	NP_000825.2:p.Lys1402Arg
XM_005253351.2:c.1991A>G	XP_005253408.1:p.Lys664Arg
XM_011520628.1:c.4205A>G	XP_011518930.1:p.Lys1402Arg
XM_011520629.1:c.4205A>G	XP_011518931.1:p.Lys1402Arg
XM_011520630.1:c.4205A>G	XP_011518932.1:p.Lys1402Arg
NM_000834.4:c.4205A>G	NP_000825.2:p.Lys1402Arg
XM_005253351.3:c.1991A>G	XP_005253408.1:p.Lys664Arg
XM_011520628.2:c.4205A>G	XP_011518930.1:p.Lys1402Arg
XM_011520629.2:c.4205A>G	XP_011518931.1:p.Lys1402Arg
XM_017019219.2:c.4205A>G	XP_016874708.1:p.Lys1402Arg
NM_000834.5:c.4205A>G MANE Select	NP_000825.2:p.Lys1402Arg