Canonical Allele Identifier: CA233133980

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1914509
• ClinVar RCV Id: RCV002612759 ; RCV004545349
• dbSNP Id: rs929166123
• gnomAD v4: 12-13564037-G-T
• MyVariant Identifiers: chr12:g.13716971G>T (hg19) ; chr12:g.13564037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564037G>T , CM000674.2:g.13564037G>T	GRCh38
NC_000012.11:g.13716971G>T , CM000674.1:g.13716971G>T	GRCh37
NC_000012.10:g.13608238G>T	NCBI36
NG_031854.1:g.421052C>A
NG_031854.2:g.422976C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3201C>A MANE Select	ENSP00000477455.1:p.Thr1067=
ENST00000637214.1:c.69+44566C>A	ENSP00000489997.1:n.69+44566C>A
ENST00000609686.3:c.3201C>A	ENSP00000477455.1:p.Thr1067=
ENST00000628166.1:n.1461C>A
NM_000834.3:c.3201C>A	NP_000825.2:p.Thr1067=
XM_005253351.2:c.987C>A	XP_005253408.1:p.Thr329=
XM_011520628.1:c.3201C>A	XP_011518930.1:p.Thr1067=
XM_011520629.1:c.3201C>A	XP_011518931.1:p.Thr1067=
XM_011520630.1:c.3201C>A	XP_011518932.1:p.Thr1067=
NM_000834.4:c.3201C>A	NP_000825.2:p.Thr1067=
XM_005253351.3:c.987C>A	XP_005253408.1:p.Thr329=
XM_011520628.2:c.3201C>A	XP_011518930.1:p.Thr1067=
XM_011520629.2:c.3201C>A	XP_011518931.1:p.Thr1067=
XM_017019219.2:c.3201C>A	XP_016874708.1:p.Thr1067=
NM_000834.5:c.3201C>A MANE Select	NP_000825.2:p.Thr1067=