Canonical Allele Identifier: CA383996186

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 426296
• ClinVar RCV Id: RCV000488929 ; RCV001260640 ; RCV001265378 ; RCV002063832 ; RCV003233648
• dbSNP Id: rs1085307547
• COSMIC: COSM1360356
• MyVariant Identifiers: chr12:g.13720042C>T (hg19) ; chr12:g.13567108C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13567108C>T , CM000674.2:g.13567108C>T	GRCh38
NC_000012.11:g.13720042C>T , CM000674.1:g.13720042C>T	GRCh37
NC_000012.10:g.13611309C>T	NCBI36
NG_031854.1:g.417981G>A
NG_031854.2:g.419905G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2515G>A MANE Select	ENSP00000477455.1:p.Glu839Lys
ENST00000637214.1:c.69+41495G>A	ENSP00000489997.1:n.69+41495G>A
ENST00000609686.3:c.2515G>A	ENSP00000477455.1:p.Glu839Lys
ENST00000628166.1:n.775G>A
NM_000834.3:c.2515G>A	NP_000825.2:p.Glu839Lys
XM_005253351.2:c.301G>A	XP_005253408.1:p.Glu101Lys
XM_011520628.1:c.2515G>A	XP_011518930.1:p.Glu839Lys
XM_011520629.1:c.2515G>A	XP_011518931.1:p.Glu839Lys
XM_011520630.1:c.2515G>A	XP_011518932.1:p.Glu839Lys
NM_000834.4:c.2515G>A	NP_000825.2:p.Glu839Lys
XM_005253351.3:c.301G>A	XP_005253408.1:p.Glu101Lys
XM_011520628.2:c.2515G>A	XP_011518930.1:p.Glu839Lys
XM_011520629.2:c.2515G>A	XP_011518931.1:p.Glu839Lys
XM_017019219.2:c.2515G>A	XP_016874708.1:p.Glu839Lys
NM_000834.5:c.2515G>A MANE Select	NP_000825.2:p.Glu839Lys