Canonical Allele Identifier: CA384050982

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 561025
• ClinVar RCV Id: RCV000680002 ; RCV001265477 ; RCV001542071
• dbSNP Id: rs1565474582
• COSMIC: COSM6213634
• MyVariant Identifiers: chr12:g.13761610T>C (hg19) ; chr12:g.13608676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608676T>C , CM000674.2:g.13608676T>C	GRCh38
NC_000012.11:g.13761610T>C , CM000674.1:g.13761610T>C	GRCh37
NC_000012.10:g.13652877T>C	NCBI36
NG_031854.1:g.376413A>G
NG_031854.2:g.378337A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1937A>G MANE Select	ENSP00000477455.1:p.Tyr646Cys
ENST00000628166.2:n.197A>G
ENST00000609686.3:c.1937A>G	ENSP00000477455.1:p.Tyr646Cys
ENST00000628166.1:n.197A>G
NM_000834.3:c.1937A>G	NP_000825.2:p.Tyr646Cys
XM_011520628.1:c.1937A>G	XP_011518930.1:p.Tyr646Cys
XM_011520629.1:c.1937A>G	XP_011518931.1:p.Tyr646Cys
XM_011520630.1:c.1937A>G	XP_011518932.1:p.Tyr646Cys
XR_931372.1:n.179-6422T>C
XR_931373.1:n.237T>C
NM_000834.4:c.1937A>G	NP_000825.2:p.Tyr646Cys
XM_005253351.3:c.-117A>G	XP_005253408.1:n.-117A>G
XM_011520628.2:c.1937A>G	XP_011518930.1:p.Tyr646Cys
XM_011520629.2:c.1937A>G	XP_011518931.1:p.Tyr646Cys
XM_017019219.2:c.1937A>G	XP_016874708.1:p.Tyr646Cys
XR_001749013.1:n.376T>C
XR_931372.2:n.316-6422T>C
XR_931373.2:n.376T>C
NM_000834.5:c.1937A>G MANE Select	NP_000825.2:p.Tyr646Cys