Canonical Allele Identifier: CA384051858

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1701895
• ClinVar RCV Id: RCV002277699
• dbSNP Id: rs2136479447
• MyVariant Identifiers: chr12:g.13768134A>G (hg19) ; chr12:g.13615200A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615200A>G , CM000674.2:g.13615200A>G	GRCh38
NC_000012.11:g.13768134A>G , CM000674.1:g.13768134A>G	GRCh37
NC_000012.10:g.13659401A>G	NCBI36
NG_031854.1:g.369889T>C
NG_031854.2:g.371813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1568T>C MANE Select	ENSP00000477455.1:p.Val523Ala
ENST00000609686.3:c.1568T>C	ENSP00000477455.1:p.Val523Ala
NM_000834.3:c.1568T>C	NP_000825.2:p.Val523Ala
XM_011520628.1:c.1568T>C	XP_011518930.1:p.Val523Ala
XM_011520629.1:c.1568T>C	XP_011518931.1:p.Val523Ala
XM_011520630.1:c.1568T>C	XP_011518932.1:p.Val523Ala
XR_931372.1:n.281A>G
XR_931373.1:n.421A>G
XR_931374.1:n.220A>G
NM_000834.4:c.1568T>C	NP_000825.2:p.Val523Ala
XM_011520628.2:c.1568T>C	XP_011518930.1:p.Val523Ala
XM_011520629.2:c.1568T>C	XP_011518931.1:p.Val523Ala
XM_017019219.2:c.1568T>C	XP_016874708.1:p.Val523Ala
XR_001749013.1:n.702A>G
XR_931372.2:n.418A>G
XR_931373.2:n.560A>G
NM_000834.5:c.1568T>C MANE Select	NP_000825.2:p.Val523Ala