Canonical Allele Identifier: CA233011681

Gene: GRIN2B

Linked Data

• dbSNP Id: rs566806563
• gnomAD v2: 12-13770242-C-T
• gnomAD v3: 12-13617308-C-T
• gnomAD v4: 12-13617308-C-T
• MyVariant Identifiers: chr12:g.13770242C>T (hg19) ; chr12:g.13617308C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13617308C>T , CM000674.2:g.13617308C>T	GRCh38
NC_000012.11:g.13770242C>T , CM000674.1:g.13770242C>T	GRCh37
NC_000012.10:g.13661509C>T	NCBI36
NG_031854.1:g.367781G>A
NG_031854.2:g.369705G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1126-651G>A MANE Select	ENSP00000477455.1:n.1126-651G>A
ENST00000630791.2:c.1126-651G>A	ENSP00000486677.2:n.1126-651G>A
ENST00000609686.3:c.1126-651G>A	ENSP00000477455.1:n.1126-651G>A
NM_000834.3:c.1126-651G>A	NP_000825.2:n.1126-651G>A
XM_011520628.1:c.1126-651G>A	XP_011518930.1:n.1126-651G>A
XM_011520629.1:c.1126-651G>A	XP_011518931.1:n.1126-651G>A
XM_011520630.1:c.1126-651G>A	XP_011518932.1:n.1126-651G>A
XR_931372.1:n.307+2082C>T
XR_931373.1:n.447+2082C>T
XR_931374.1:n.246+2082C>T
NM_000834.4:c.1126-651G>A	NP_000825.2:n.1126-651G>A
XM_011520628.2:c.1126-651G>A	XP_011518930.1:n.1126-651G>A
XM_011520629.2:c.1126-651G>A	XP_011518931.1:n.1126-651G>A
XM_017019219.2:c.1126-651G>A	XP_016874708.1:n.1126-651G>A
XR_001749013.1:n.728+2082C>T
XR_931372.2:n.444+2082C>T
XR_931373.2:n.586+2082C>T
NM_000834.5:c.1126-651G>A MANE Select	NP_000825.2:n.1126-651G>A