Canonical Allele Identifier: CA357906
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 224818
ClinVar RCV Id: RCV000210391 RCV000478281 RCV001004753 RCV001265248 RCV001853372 RCV003126605
dbSNP Id: rs869312868
MyVariant Identifiers: chr12:g.13724844C>T (hg19) chr12:g.13571910C>T (hg38)
PubMed: PMID:26350515 PMID:28135719
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13571910C>T , CM000674.2:g.13571910C>T GRCh38
NC_000012.11:g.13724844C>T , CM000674.1:g.13724844C>T GRCh37
NC_000012.10:g.13616111C>T NCBI36
NG_031854.1:g.413179G>A
NG_031854.2:g.415103G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.2065G>A MANE Select ENSP00000477455.1:p.Gly689Ser
ENST00000628166.2:n.325G>A
ENST00000637214.1:c.69+36693G>A ENSP00000489997.1:n.69+36693G>A
ENST00000609686.3:c.2065G>A ENSP00000477455.1:p.Gly689Ser
ENST00000628166.1:n.325G>A
NM_000834.3:c.2065G>A NP_000825.2:p.Gly689Ser
XM_005253351.2:c.-43-1893G>A XP_005253408.1:n.-43-1893G>A
XM_011520628.1:c.2065G>A XP_011518930.1:p.Gly689Ser
XM_011520629.1:c.2065G>A XP_011518931.1:p.Gly689Ser
XM_011520630.1:c.2065G>A XP_011518932.1:p.Gly689Ser
NM_000834.4:c.2065G>A NP_000825.2:p.Gly689Ser
XM_005253351.3:c.-43-1893G>A XP_005253408.1:n.-43-1893G>A
XM_011520628.2:c.2065G>A XP_011518930.1:p.Gly689Ser
XM_011520629.2:c.2065G>A XP_011518931.1:p.Gly689Ser
XM_017019219.2:c.2065G>A XP_016874708.1:p.Gly689Ser
NM_000834.5:c.2065G>A MANE Select NP_000825.2:p.Gly689Ser
Search 100 bp 5'
Search 100 bp 3'