Canonical Allele Identifier: CA384054520

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13866012-G-T
• MyVariant Identifiers: chr12:g.14018946G>T (hg19) ; chr12:g.13866012G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866012G>T , CM000674.2:g.13866012G>T	GRCh38
NC_000012.11:g.14018946G>T , CM000674.1:g.14018946G>T	GRCh37
NC_000012.10:g.13910213G>T	NCBI36
NG_031854.1:g.119077C>A
NG_031854.2:g.121001C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.197C>A MANE Select	ENSP00000477455.1:p.Pro66His
ENST00000630791.2:c.197C>A	ENSP00000486677.2:p.Pro66His
ENST00000609686.3:c.197C>A	ENSP00000477455.1:p.Pro66His
NM_000834.3:c.197C>A	NP_000825.2:p.Pro66His
XM_011520628.1:c.197C>A	XP_011518930.1:p.Pro66His
XM_011520629.1:c.197C>A	XP_011518931.1:p.Pro66His
XM_011520630.1:c.197C>A	XP_011518932.1:p.Pro66His
NM_000834.4:c.197C>A	NP_000825.2:p.Pro66His
XM_011520628.2:c.197C>A	XP_011518930.1:p.Pro66His
XM_011520629.2:c.197C>A	XP_011518931.1:p.Pro66His
XM_017019219.2:c.197C>A	XP_016874708.1:p.Pro66His
NM_000834.5:c.197C>A MANE Select	NP_000825.2:p.Pro66His