Canonical Allele Identifier: CA384054099

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13753704-G-T
• MyVariant Identifiers: chr12:g.13906638G>T (hg19) ; chr12:g.13753704G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753704G>T , CM000674.2:g.13753704G>T	GRCh38
NC_000012.11:g.13906638G>T , CM000674.1:g.13906638G>T	GRCh37
NC_000012.10:g.13797905G>T	NCBI36
NG_031854.1:g.231385C>A
NG_031854.2:g.233309C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.623C>A MANE Select	ENSP00000477455.1:p.Ser208Tyr
ENST00000630791.2:c.623C>A	ENSP00000486677.2:p.Ser208Tyr
ENST00000609686.3:c.623C>A	ENSP00000477455.1:p.Ser208Tyr
NM_000834.3:c.623C>A	NP_000825.2:p.Ser208Tyr
XM_011520628.1:c.623C>A	XP_011518930.1:p.Ser208Tyr
XM_011520629.1:c.623C>A	XP_011518931.1:p.Ser208Tyr
XM_011520630.1:c.623C>A	XP_011518932.1:p.Ser208Tyr
NM_000834.4:c.623C>A	NP_000825.2:p.Ser208Tyr
XM_011520628.2:c.623C>A	XP_011518930.1:p.Ser208Tyr
XM_011520629.2:c.623C>A	XP_011518931.1:p.Ser208Tyr
XM_017019219.2:c.623C>A	XP_016874708.1:p.Ser208Tyr
NM_000834.5:c.623C>A MANE Select	NP_000825.2:p.Ser208Tyr