Canonical Allele Identifier: CA384054802

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13866063-G-A
• MyVariant Identifiers: chr12:g.14018997G>A (hg19) ; chr12:g.13866063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866063G>A , CM000674.2:g.13866063G>A	GRCh38
NC_000012.11:g.14018997G>A , CM000674.1:g.14018997G>A	GRCh37
NC_000012.10:g.13910264G>A	NCBI36
NG_031854.1:g.119026C>T
NG_031854.2:g.120950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.146C>T MANE Select	ENSP00000477455.1:p.Ala49Val
ENST00000630791.2:c.146C>T	ENSP00000486677.2:p.Ala49Val
ENST00000609686.3:c.146C>T	ENSP00000477455.1:p.Ala49Val
NM_000834.3:c.146C>T	NP_000825.2:p.Ala49Val
XM_011520628.1:c.146C>T	XP_011518930.1:p.Ala49Val
XM_011520629.1:c.146C>T	XP_011518931.1:p.Ala49Val
XM_011520630.1:c.146C>T	XP_011518932.1:p.Ala49Val
NM_000834.4:c.146C>T	NP_000825.2:p.Ala49Val
XM_011520628.2:c.146C>T	XP_011518930.1:p.Ala49Val
XM_011520629.2:c.146C>T	XP_011518931.1:p.Ala49Val
XM_017019219.2:c.146C>T	XP_016874708.1:p.Ala49Val
NM_000834.5:c.146C>T MANE Select	NP_000825.2:p.Ala49Val