Canonical Allele Identifier: CA2573053637
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 1302119
ClinVar RCV Id: RCV001754008
dbSNP Id: rs2136746928

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13865843_13865844delinsCA , CM000674.2:g.13865843_13865844delinsCA GRCh38
NC_000012.11:g.14018777_14018778delinsCA , CM000674.1:g.14018777_14018778delinsCA GRCh37
NC_000012.10:g.13910044_13910045delinsCA NCBI36
NG_031854.1:g.119245_119246delinsTG
NG_031854.2:g.121169_121170delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.365_366delinsTG MANE Select ENSP00000477455.1:p.Pro122Leu
ENST00000630791.2:c.365_366delinsTG ENSP00000486677.2:p.Pro122Leu
ENST00000609686.3:c.365_366delinsTG ENSP00000477455.1:p.Pro122Leu
NM_000834.3:c.365_366delinsTG NP_000825.2:p.Pro122Leu
XM_011520628.1:c.365_366delinsTG XP_011518930.1:p.Pro122Leu
XM_011520629.1:c.365_366delinsTG XP_011518931.1:p.Pro122Leu
XM_011520630.1:c.365_366delinsTG XP_011518932.1:p.Pro122Leu
NM_000834.4:c.365_366delinsTG NP_000825.2:p.Pro122Leu
XM_011520628.2:c.365_366delinsTG XP_011518930.1:p.Pro122Leu
XM_011520629.2:c.365_366delinsTG XP_011518931.1:p.Pro122Leu
XM_017019219.2:c.365_366delinsTG XP_016874708.1:p.Pro122Leu
NM_000834.5:c.365_366delinsTG MANE Select NP_000825.2:p.Pro122Leu