Canonical Allele Identifier: CA6461444

Gene: GRIN2B

Linked Data

• dbSNP Id: rs765215838
• ExAC: 12:14018950 C / T
• gnomAD v2: 12-14018950-C-T
• gnomAD v4: 12-13866016-C-T
• MyVariant Identifiers: chr12:g.14018950C>T (hg19) ; chr12:g.13866016C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866016C>T , CM000674.2:g.13866016C>T	GRCh38
NC_000012.11:g.14018950C>T , CM000674.1:g.14018950C>T	GRCh37
NC_000012.10:g.13910217C>T	NCBI36
NG_031854.1:g.119073G>A
NG_031854.2:g.120997G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.193G>A MANE Select	ENSP00000477455.1:p.Val65Ile
ENST00000630791.2:c.193G>A	ENSP00000486677.2:p.Val65Ile
ENST00000609686.3:c.193G>A	ENSP00000477455.1:p.Val65Ile
NM_000834.3:c.193G>A	NP_000825.2:p.Val65Ile
XM_011520628.1:c.193G>A	XP_011518930.1:p.Val65Ile
XM_011520629.1:c.193G>A	XP_011518931.1:p.Val65Ile
XM_011520630.1:c.193G>A	XP_011518932.1:p.Val65Ile
NM_000834.4:c.193G>A	NP_000825.2:p.Val65Ile
XM_011520628.2:c.193G>A	XP_011518930.1:p.Val65Ile
XM_011520629.2:c.193G>A	XP_011518931.1:p.Val65Ile
XM_017019219.2:c.193G>A	XP_016874708.1:p.Val65Ile
NM_000834.5:c.193G>A MANE Select	NP_000825.2:p.Val65Ile