Canonical Allele Identifier: CA384053391

Gene: GRIN2B

Linked Data

• dbSNP Id: rs2136629073
• COSMIC: COSM1360373
• MyVariant Identifiers: chr12:g.13906452G>T (hg19) ; chr12:g.13753518G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753518G>T , CM000674.2:g.13753518G>T	GRCh38
NC_000012.11:g.13906452G>T , CM000674.1:g.13906452G>T	GRCh37
NC_000012.10:g.13797719G>T	NCBI36
NG_031854.1:g.231571C>A
NG_031854.2:g.233495C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.809C>A MANE Select	ENSP00000477455.1:p.Pro270His
ENST00000630791.2:c.809C>A	ENSP00000486677.2:p.Pro270His
ENST00000609686.3:c.809C>A	ENSP00000477455.1:p.Pro270His
NM_000834.3:c.809C>A	NP_000825.2:p.Pro270His
XM_011520628.1:c.809C>A	XP_011518930.1:p.Pro270His
XM_011520629.1:c.809C>A	XP_011518931.1:p.Pro270His
XM_011520630.1:c.809C>A	XP_011518932.1:p.Pro270His
NM_000834.4:c.809C>A	NP_000825.2:p.Pro270His
XM_011520628.2:c.809C>A	XP_011518930.1:p.Pro270His
XM_011520629.2:c.809C>A	XP_011518931.1:p.Pro270His
XM_017019219.2:c.809C>A	XP_016874708.1:p.Pro270His
NM_000834.5:c.809C>A MANE Select	NP_000825.2:p.Pro270His