Canonical Allele Identifier: CA6461254

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 702757
• ClinVar RCV Id: RCV000871976
• dbSNP Id: rs200607718
• ExAC: 12:13768577 C / T
• gnomAD v2: 12-13768577-C-T
• gnomAD v3: 12-13615643-C-T
• gnomAD v4: 12-13615643-C-T
• MyVariant Identifiers: chr12:g.13768577C>T (hg19) ; chr12:g.13615643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615643C>T , CM000674.2:g.13615643C>T	GRCh38
NC_000012.11:g.13768577C>T , CM000674.1:g.13768577C>T	GRCh37
NC_000012.10:g.13659844C>T	NCBI36
NG_031854.1:g.369446G>A
NG_031854.2:g.371370G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1350G>A MANE Select	ENSP00000477455.1:p.Pro450=
ENST00000630791.2:c.1350G>A	ENSP00000486677.2:p.Pro450=
ENST00000609686.3:c.1350G>A	ENSP00000477455.1:p.Pro450=
NM_000834.3:c.1350G>A	NP_000825.2:p.Pro450=
XM_011520628.1:c.1350G>A	XP_011518930.1:p.Pro450=
XM_011520629.1:c.1350G>A	XP_011518931.1:p.Pro450=
XM_011520630.1:c.1350G>A	XP_011518932.1:p.Pro450=
XR_931372.1:n.307+417C>T
XR_931373.1:n.447+417C>T
XR_931374.1:n.246+417C>T
NM_000834.4:c.1350G>A	NP_000825.2:p.Pro450=
XM_011520628.2:c.1350G>A	XP_011518930.1:p.Pro450=
XM_011520629.2:c.1350G>A	XP_011518931.1:p.Pro450=
XM_017019219.2:c.1350G>A	XP_016874708.1:p.Pro450=
XR_001749013.1:n.728+417C>T
XR_931372.2:n.444+417C>T
XR_931373.2:n.586+417C>T
NM_000834.5:c.1350G>A MANE Select	NP_000825.2:p.Pro450=