Canonical Allele Identifier: CA384052309

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2633548
• ClinVar RCV Id: RCV004529292
• MyVariant Identifiers: chr12:g.13768549A>C (hg19) ; chr12:g.13615615A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615615A>C , CM000674.2:g.13615615A>C	GRCh38
NC_000012.11:g.13768549A>C , CM000674.1:g.13768549A>C	GRCh37
NC_000012.10:g.13659816A>C	NCBI36
NG_031854.1:g.369474T>G
NG_031854.2:g.371398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1378T>G MANE Select	ENSP00000477455.1:p.Phe460Val
ENST00000630791.2:c.1378T>G	ENSP00000486677.2:p.Phe460Val
ENST00000609686.3:c.1378T>G	ENSP00000477455.1:p.Phe460Val
NM_000834.3:c.1378T>G	NP_000825.2:p.Phe460Val
XM_011520628.1:c.1378T>G	XP_011518930.1:p.Phe460Val
XM_011520629.1:c.1378T>G	XP_011518931.1:p.Phe460Val
XM_011520630.1:c.1378T>G	XP_011518932.1:p.Phe460Val
XR_931372.1:n.307+389A>C
XR_931373.1:n.447+389A>C
XR_931374.1:n.246+389A>C
NM_000834.4:c.1378T>G	NP_000825.2:p.Phe460Val
XM_011520628.2:c.1378T>G	XP_011518930.1:p.Phe460Val
XM_011520629.2:c.1378T>G	XP_011518931.1:p.Phe460Val
XM_017019219.2:c.1378T>G	XP_016874708.1:p.Phe460Val
XR_001749013.1:n.728+389A>C
XR_931372.2:n.444+389A>C
XR_931373.2:n.586+389A>C
NM_000834.5:c.1378T>G MANE Select	NP_000825.2:p.Phe460Val