Canonical Allele Identifier: CA130440
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 39661
ClinVar RCV Id: RCV000032865 RCV002466416
dbSNP Id: rs397514556
MyVariant Identifiers: chr12:g.13764781G>A (hg19) chr12:g.13611847G>A (hg38)
PubMed: PMID:16537520 PMID:23033978
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13611847G>A , CM000674.2:g.13611847G>A GRCh38
NC_000012.11:g.13764781G>A , CM000674.1:g.13764781G>A GRCh37
NC_000012.10:g.13656048G>A NCBI36
NG_031854.1:g.373242C>T
NG_031854.2:g.375166C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.1658C>T MANE Select ENSP00000477455.1:p.Pro553Leu
ENST00000609686.3:c.1658C>T ENSP00000477455.1:p.Pro553Leu
NM_000834.3:c.1658C>T NP_000825.2:p.Pro553Leu
XM_011520628.1:c.1658C>T XP_011518930.1:p.Pro553Leu
XM_011520629.1:c.1658C>T XP_011518931.1:p.Pro553Leu
XM_011520630.1:c.1658C>T XP_011518932.1:p.Pro553Leu
XR_931372.1:n.179-3251G>A
XR_931373.1:n.318+3090G>A
XR_931374.1:n.117+1247G>A
NM_000834.4:c.1658C>T NP_000825.2:p.Pro553Leu
XM_011520628.2:c.1658C>T XP_011518930.1:p.Pro553Leu
XM_011520629.2:c.1658C>T XP_011518931.1:p.Pro553Leu
XM_017019219.2:c.1658C>T XP_016874708.1:p.Pro553Leu
XR_001749013.1:n.599+1247G>A
XR_931372.2:n.316-3251G>A
XR_931373.2:n.457+3090G>A
NM_000834.5:c.1658C>T MANE Select NP_000825.2:p.Pro553Leu
Search 100 bp 5'
Search 100 bp 3'