Canonical Allele Identifier: CA204589

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 208643
• ClinVar RCV Id: RCV000190648 ; RCV000235569 ; RCV000464558 ; RCV000791283 ; RCV001265246
• dbSNP Id: rs797044849
• gnomAD v2: 12-13720098-C-G
• MyVariant Identifiers: chr12:g.13720098C>G (hg19) ; chr12:g.13567164C>G (hg38)
• PubMed: PMID:17357078 ; PMID:20890276 ; PMID:21572417 ; PMID:22796429 ; PMID:22833210 ; PMID:23033978 ; PMID:23160955 ; PMID:23718928 ; PMID:23933819 ; PMID:23933820 ; PMID:23934111 ; PMID:24126926 ; PMID:24267886 ; PMID:24272827 ; PMID:24999380 ; PMID:25356899 ; PMID:27605359 ; PMID:28135719 ; PMID:28377535

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13567164C>G , CM000674.2:g.13567164C>G	GRCh38
NC_000012.11:g.13720098C>G , CM000674.1:g.13720098C>G	GRCh37
NC_000012.10:g.13611365C>G	NCBI36
NG_031854.1:g.417925G>C
NG_031854.2:g.419849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2459G>C MANE Select	ENSP00000477455.1:p.Gly820Ala
ENST00000628166.2:n.719G>C
ENST00000637214.1:c.69+41439G>C	ENSP00000489997.1:n.69+41439G>C
ENST00000609686.3:c.2459G>C	ENSP00000477455.1:p.Gly820Ala
ENST00000628166.1:n.719G>C
NM_000834.3:c.2459G>C	NP_000825.2:p.Gly820Ala
XM_005253351.2:c.245G>C	XP_005253408.1:p.Gly82Ala
XM_011520628.1:c.2459G>C	XP_011518930.1:p.Gly820Ala
XM_011520629.1:c.2459G>C	XP_011518931.1:p.Gly820Ala
XM_011520630.1:c.2459G>C	XP_011518932.1:p.Gly820Ala
NM_000834.4:c.2459G>C	NP_000825.2:p.Gly820Ala
XM_005253351.3:c.245G>C	XP_005253408.1:p.Gly82Ala
XM_011520628.2:c.2459G>C	XP_011518930.1:p.Gly820Ala
XM_011520629.2:c.2459G>C	XP_011518931.1:p.Gly820Ala
XM_017019219.2:c.2459G>C	XP_016874708.1:p.Gly820Ala
NM_000834.5:c.2459G>C MANE Select	NP_000825.2:p.Gly820Ala