Canonical Allele Identifier: CA6461395

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2934454
• ClinVar RCV Id: RCV003796204
• dbSNP Id: rs750970219
• ExAC: 12:13906766 G / A
• gnomAD v2: 12-13906766-G-A
• gnomAD v4: 12-13753832-G-A
• MyVariant Identifiers: chr12:g.13906766G>A (hg19) ; chr12:g.13753832G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753832G>A , CM000674.2:g.13753832G>A	GRCh38
NC_000012.11:g.13906766G>A , CM000674.1:g.13906766G>A	GRCh37
NC_000012.10:g.13798033G>A	NCBI36
NG_031854.1:g.231257C>T
NG_031854.2:g.233181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.495C>T MANE Select	ENSP00000477455.1:p.Asp165=
ENST00000630791.2:c.495C>T	ENSP00000486677.2:p.Asp165=
ENST00000609686.3:c.495C>T	ENSP00000477455.1:p.Asp165=
NM_000834.3:c.495C>T	NP_000825.2:p.Asp165=
XM_011520628.1:c.495C>T	XP_011518930.1:p.Asp165=
XM_011520629.1:c.495C>T	XP_011518931.1:p.Asp165=
XM_011520630.1:c.495C>T	XP_011518932.1:p.Asp165=
NM_000834.4:c.495C>T	NP_000825.2:p.Asp165=
XM_011520628.2:c.495C>T	XP_011518930.1:p.Asp165=
XM_011520629.2:c.495C>T	XP_011518931.1:p.Asp165=
XM_017019219.2:c.495C>T	XP_016874708.1:p.Asp165=
NM_000834.5:c.495C>T MANE Select	NP_000825.2:p.Asp165=