Canonical Allele Identifier: CA603450336

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1246115864
• gnomAD v2: 12-13770128-C-G
• gnomAD v3: 12-13617194-C-G
• gnomAD v4: 12-13617194-C-G
• MyVariant Identifiers: chr12:g.13770128C>G (hg19) ; chr12:g.13617194C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13617194C>G , CM000674.2:g.13617194C>G	GRCh38
NC_000012.11:g.13770128C>G , CM000674.1:g.13770128C>G	GRCh37
NC_000012.10:g.13661395C>G	NCBI36
NG_031854.1:g.367895G>C
NG_031854.2:g.369819G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1126-537G>C MANE Select	ENSP00000477455.1:n.1126-537G>C
ENST00000630791.2:c.1126-537G>C	ENSP00000486677.2:n.1126-537G>C
ENST00000609686.3:c.1126-537G>C	ENSP00000477455.1:n.1126-537G>C
NM_000834.3:c.1126-537G>C	NP_000825.2:n.1126-537G>C
XM_011520628.1:c.1126-537G>C	XP_011518930.1:n.1126-537G>C
XM_011520629.1:c.1126-537G>C	XP_011518931.1:n.1126-537G>C
XM_011520630.1:c.1126-537G>C	XP_011518932.1:n.1126-537G>C
XR_931372.1:n.307+1968C>G
XR_931373.1:n.447+1968C>G
XR_931374.1:n.246+1968C>G
NM_000834.4:c.1126-537G>C	NP_000825.2:n.1126-537G>C
XM_011520628.2:c.1126-537G>C	XP_011518930.1:n.1126-537G>C
XM_011520629.2:c.1126-537G>C	XP_011518931.1:n.1126-537G>C
XM_017019219.2:c.1126-537G>C	XP_016874708.1:n.1126-537G>C
XR_001749013.1:n.728+1968C>G
XR_931372.2:n.444+1968C>G
XR_931373.2:n.586+1968C>G
NM_000834.5:c.1126-537G>C MANE Select	NP_000825.2:n.1126-537G>C