Canonical Allele Identifier: CA6461378

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 416584
• ClinVar RCV Id: RCV000471946
• dbSNP Id: rs148254591
• ExAC: 12:13906580 G / T
• gnomAD v2: 12-13906580-G-T
• gnomAD v3: 12-13753646-G-T
• gnomAD v4: 12-13753646-G-T
• MyVariant Identifiers: chr12:g.13906580G>T (hg19) ; chr12:g.13753646G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753646G>T , CM000674.2:g.13753646G>T	GRCh38
NC_000012.11:g.13906580G>T , CM000674.1:g.13906580G>T	GRCh37
NC_000012.10:g.13797847G>T	NCBI36
NG_031854.1:g.231443C>A
NG_031854.2:g.233367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.681C>A MANE Select	ENSP00000477455.1:p.Ile227=
ENST00000630791.2:c.681C>A	ENSP00000486677.2:p.Ile227=
ENST00000609686.3:c.681C>A	ENSP00000477455.1:p.Ile227=
NM_000834.3:c.681C>A	NP_000825.2:p.Ile227=
XM_011520628.1:c.681C>A	XP_011518930.1:p.Ile227=
XM_011520629.1:c.681C>A	XP_011518931.1:p.Ile227=
XM_011520630.1:c.681C>A	XP_011518932.1:p.Ile227=
NM_000834.4:c.681C>A	NP_000825.2:p.Ile227=
XM_011520628.2:c.681C>A	XP_011518930.1:p.Ile227=
XM_011520629.2:c.681C>A	XP_011518931.1:p.Ile227=
XM_017019219.2:c.681C>A	XP_016874708.1:p.Ile227=
NM_000834.5:c.681C>A MANE Select	NP_000825.2:p.Ile227=