Canonical Allele Identifier: CA6461237
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 676571
ClinVar RCV Id: RCV000836011
dbSNP Id: rs182836140

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13615446G>A , CM000674.2:g.13615446G>A GRCh38
NC_000012.11:g.13768380G>A , CM000674.1:g.13768380G>A GRCh37
NC_000012.10:g.13659647G>A NCBI36
NG_031854.1:g.369643C>T
NG_031854.2:g.371567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.1500+47C>T MANE Select ENSP00000477455.1:n.1500+47C>T
ENST00000609686.3:c.1500+47C>T ENSP00000477455.1:n.1500+47C>T
NM_000834.3:c.1500+47C>T NP_000825.2:n.1500+47C>T
XM_011520628.1:c.1500+47C>T XP_011518930.1:n.1500+47C>T
XM_011520629.1:c.1500+47C>T XP_011518931.1:n.1500+47C>T
XM_011520630.1:c.1500+47C>T XP_011518932.1:n.1500+47C>T
XR_931372.1:n.307+220G>A
XR_931373.1:n.447+220G>A
XR_931374.1:n.246+220G>A
NM_000834.4:c.1500+47C>T NP_000825.2:n.1500+47C>T
XM_011520628.2:c.1500+47C>T XP_011518930.1:n.1500+47C>T
XM_011520629.2:c.1500+47C>T XP_011518931.1:n.1500+47C>T
XM_017019219.2:c.1500+47C>T XP_016874708.1:n.1500+47C>T
XR_001749013.1:n.728+220G>A
XR_931372.2:n.444+220G>A
XR_931373.2:n.586+220G>A
NM_000834.5:c.1500+47C>T MANE Select NP_000825.2:n.1500+47C>T