Canonical Allele Identifier: CA6460955

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1009295
• ClinVar RCV Id: RCV001306762 ; RCV001330051
• dbSNP Id: rs761281000
• ExAC: 12:13717168 C / G
• gnomAD v2: 12-13717168-C-G
• gnomAD v3: 12-13564234-C-G
• gnomAD v4: 12-13564234-C-G
• MyVariant Identifiers: chr12:g.13717168C>G (hg19) ; chr12:g.13564234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564234C>G , CM000674.2:g.13564234C>G	GRCh38
NC_000012.11:g.13717168C>G , CM000674.1:g.13717168C>G	GRCh37
NC_000012.10:g.13608435C>G	NCBI36
NG_031854.1:g.420855G>C
NG_031854.2:g.422779G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.3004G>C MANE Select	ENSP00000477455.1:p.Gly1002Arg
ENST00000637214.1:c.69+44369G>C	ENSP00000489997.1:n.69+44369G>C
ENST00000609686.3:c.3004G>C	ENSP00000477455.1:p.Gly1002Arg
ENST00000628166.1:n.1264G>C
NM_000834.3:c.3004G>C	NP_000825.2:p.Gly1002Arg
XM_005253351.2:c.790G>C	XP_005253408.1:p.Gly264Arg
XM_011520628.1:c.3004G>C	XP_011518930.1:p.Gly1002Arg
XM_011520629.1:c.3004G>C	XP_011518931.1:p.Gly1002Arg
XM_011520630.1:c.3004G>C	XP_011518932.1:p.Gly1002Arg
NM_000834.4:c.3004G>C	NP_000825.2:p.Gly1002Arg
XM_005253351.3:c.790G>C	XP_005253408.1:p.Gly264Arg
XM_011520628.2:c.3004G>C	XP_011518930.1:p.Gly1002Arg
XM_011520629.2:c.3004G>C	XP_011518931.1:p.Gly1002Arg
XM_017019219.2:c.3004G>C	XP_016874708.1:p.Gly1002Arg
NM_000834.5:c.3004G>C MANE Select	NP_000825.2:p.Gly1002Arg