Canonical Allele Identifier: CA384054907

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1490523
• ClinVar RCV Id: RCV001983783
• dbSNP Id: rs1184168879
• gnomAD v2: 12-13906836-A-G
• gnomAD v4: 12-13753902-A-G
• MyVariant Identifiers: chr12:g.13906836A>G (hg19) ; chr12:g.13753902A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753902A>G , CM000674.2:g.13753902A>G	GRCh38
NC_000012.11:g.13906836A>G , CM000674.1:g.13906836A>G	GRCh37
NC_000012.10:g.13798103A>G	NCBI36
NG_031854.1:g.231187T>C
NG_031854.2:g.233111T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.425T>C MANE Select	ENSP00000477455.1:p.Met142Thr
ENST00000630791.2:c.425T>C	ENSP00000486677.2:p.Met142Thr
ENST00000609686.3:c.425T>C	ENSP00000477455.1:p.Met142Thr
NM_000834.3:c.425T>C	NP_000825.2:p.Met142Thr
XM_011520628.1:c.425T>C	XP_011518930.1:p.Met142Thr
XM_011520629.1:c.425T>C	XP_011518931.1:p.Met142Thr
XM_011520630.1:c.425T>C	XP_011518932.1:p.Met142Thr
NM_000834.4:c.425T>C	NP_000825.2:p.Met142Thr
XM_011520628.2:c.425T>C	XP_011518930.1:p.Met142Thr
XM_011520629.2:c.425T>C	XP_011518931.1:p.Met142Thr
XM_017019219.2:c.425T>C	XP_016874708.1:p.Met142Thr
NM_000834.5:c.425T>C MANE Select	NP_000825.2:p.Met142Thr