Canonical Allele Identifier: CA6461159

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2933093
• ClinVar RCV Id: RCV003790211
• dbSNP Id: rs377354382
• ExAC: 12:13761761 C / G
• gnomAD v2: 12-13761761-C-G
• gnomAD v3: 12-13608827-C-G
• gnomAD v4: 12-13608827-C-G
• MyVariant Identifiers: chr12:g.13761761C>G (hg19) ; chr12:g.13608827C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608827C>G , CM000674.2:g.13608827C>G	GRCh38
NC_000012.11:g.13761761C>G , CM000674.1:g.13761761C>G	GRCh37
NC_000012.10:g.13653028C>G	NCBI36
NG_031854.1:g.376262G>C
NG_031854.2:g.378186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1786G>C MANE Select	ENSP00000477455.1:p.Gly596Arg
ENST00000628166.2:n.46G>C
ENST00000609686.3:c.1786G>C	ENSP00000477455.1:p.Gly596Arg
ENST00000628166.1:n.46G>C
NM_000834.3:c.1786G>C	NP_000825.2:p.Gly596Arg
XM_011520628.1:c.1786G>C	XP_011518930.1:p.Gly596Arg
XM_011520629.1:c.1786G>C	XP_011518931.1:p.Gly596Arg
XM_011520630.1:c.1786G>C	XP_011518932.1:p.Gly596Arg
XR_931372.1:n.179-6271C>G
XR_931373.1:n.318+70C>G
NM_000834.4:c.1786G>C	NP_000825.2:p.Gly596Arg
XM_011520628.2:c.1786G>C	XP_011518930.1:p.Gly596Arg
XM_011520629.2:c.1786G>C	XP_011518931.1:p.Gly596Arg
XM_017019219.2:c.1786G>C	XP_016874708.1:p.Gly596Arg
XR_001749013.1:n.457+70C>G
XR_931372.2:n.316-6271C>G
XR_931373.2:n.457+70C>G
NM_000834.5:c.1786G>C MANE Select	NP_000825.2:p.Gly596Arg