Canonical Allele Identifier: CA384053408

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2432293
• ClinVar RCV Id: RCV003135471
• dbSNP Id: rs1391619613
• gnomAD v2: 12-13906456-C-G
• gnomAD v4: 12-13753522-C-G
• MyVariant Identifiers: chr12:g.13906456C>G (hg19) ; chr12:g.13753522C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753522C>G , CM000674.2:g.13753522C>G	GRCh38
NC_000012.11:g.13906456C>G , CM000674.1:g.13906456C>G	GRCh37
NC_000012.10:g.13797723C>G	NCBI36
NG_031854.1:g.231567G>C
NG_031854.2:g.233491G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.805G>C MANE Select	ENSP00000477455.1:p.Val269Leu
ENST00000630791.2:c.805G>C	ENSP00000486677.2:p.Val269Leu
ENST00000609686.3:c.805G>C	ENSP00000477455.1:p.Val269Leu
NM_000834.3:c.805G>C	NP_000825.2:p.Val269Leu
XM_011520628.1:c.805G>C	XP_011518930.1:p.Val269Leu
XM_011520629.1:c.805G>C	XP_011518931.1:p.Val269Leu
XM_011520630.1:c.805G>C	XP_011518932.1:p.Val269Leu
NM_000834.4:c.805G>C	NP_000825.2:p.Val269Leu
XM_011520628.2:c.805G>C	XP_011518930.1:p.Val269Leu
XM_011520629.2:c.805G>C	XP_011518931.1:p.Val269Leu
XM_017019219.2:c.805G>C	XP_016874708.1:p.Val269Leu
NM_000834.5:c.805G>C MANE Select	NP_000825.2:p.Val269Leu