Canonical Allele Identifier: CA478853667

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1394118878
• gnomAD v2: 12-13906592-A-C
• gnomAD v4: 12-13753658-A-C
• MyVariant Identifiers: chr12:g.13906592A>C (hg19) ; chr12:g.13753658A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753658A>C , CM000674.2:g.13753658A>C	GRCh38
NC_000012.11:g.13906592A>C , CM000674.1:g.13906592A>C	GRCh37
NC_000012.10:g.13797859A>C	NCBI36
NG_031854.1:g.231431T>G
NG_031854.2:g.233355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.669T>G MANE Select	ENSP00000477455.1:p.Leu223=
ENST00000630791.2:c.669T>G	ENSP00000486677.2:p.Leu223=
ENST00000609686.3:c.669T>G	ENSP00000477455.1:p.Leu223=
NM_000834.3:c.669T>G	NP_000825.2:p.Leu223=
XM_011520628.1:c.669T>G	XP_011518930.1:p.Leu223=
XM_011520629.1:c.669T>G	XP_011518931.1:p.Leu223=
XM_011520630.1:c.669T>G	XP_011518932.1:p.Leu223=
NM_000834.4:c.669T>G	NP_000825.2:p.Leu223=
XM_011520628.2:c.669T>G	XP_011518930.1:p.Leu223=
XM_011520629.2:c.669T>G	XP_011518931.1:p.Leu223=
XM_017019219.2:c.669T>G	XP_016874708.1:p.Leu223=
NM_000834.5:c.669T>G MANE Select	NP_000825.2:p.Leu223=