Canonical Allele Identifier: CA384053245

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2156024
• ClinVar RCV Id: RCV003084034
• dbSNP Id: rs1863521989
• MyVariant Identifiers: chr12:g.13906384C>T (hg19) ; chr12:g.13753450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753450C>T , CM000674.2:g.13753450C>T	GRCh38
NC_000012.11:g.13906384C>T , CM000674.1:g.13906384C>T	GRCh37
NC_000012.10:g.13797651C>T	NCBI36
NG_031854.1:g.231639G>A
NG_031854.2:g.233563G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.877G>A MANE Select	ENSP00000477455.1:p.Val293Met
ENST00000630791.2:c.877G>A	ENSP00000486677.2:p.Val293Met
ENST00000609686.3:c.877G>A	ENSP00000477455.1:p.Val293Met
NM_000834.3:c.877G>A	NP_000825.2:p.Val293Met
XM_011520628.1:c.877G>A	XP_011518930.1:p.Val293Met
XM_011520629.1:c.877G>A	XP_011518931.1:p.Val293Met
XM_011520630.1:c.877G>A	XP_011518932.1:p.Val293Met
NM_000834.4:c.877G>A	NP_000825.2:p.Val293Met
XM_011520628.2:c.877G>A	XP_011518930.1:p.Val293Met
XM_011520629.2:c.877G>A	XP_011518931.1:p.Val293Met
XM_017019219.2:c.877G>A	XP_016874708.1:p.Val293Met
NM_000834.5:c.877G>A MANE Select	NP_000825.2:p.Val293Met