Canonical Allele Identifier: CA6461401

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1060621
• ClinVar RCV Id: RCV001370078
• dbSNP Id: rs756875824
• ExAC: 12:13906834 A / G
• gnomAD v2: 12-13906834-A-G
• gnomAD v3: 12-13753900-A-G
• gnomAD v4: 12-13753900-A-G
• MyVariant Identifiers: chr12:g.13906834A>G (hg19) ; chr12:g.13753900A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753900A>G , CM000674.2:g.13753900A>G	GRCh38
NC_000012.11:g.13906834A>G , CM000674.1:g.13906834A>G	GRCh37
NC_000012.10:g.13798101A>G	NCBI36
NG_031854.1:g.231189T>C
NG_031854.2:g.233113T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.427T>C MANE Select	ENSP00000477455.1:p.Phe143Leu
ENST00000630791.2:c.427T>C	ENSP00000486677.2:p.Phe143Leu
ENST00000609686.3:c.427T>C	ENSP00000477455.1:p.Phe143Leu
NM_000834.3:c.427T>C	NP_000825.2:p.Phe143Leu
XM_011520628.1:c.427T>C	XP_011518930.1:p.Phe143Leu
XM_011520629.1:c.427T>C	XP_011518931.1:p.Phe143Leu
XM_011520630.1:c.427T>C	XP_011518932.1:p.Phe143Leu
NM_000834.4:c.427T>C	NP_000825.2:p.Phe143Leu
XM_011520628.2:c.427T>C	XP_011518930.1:p.Phe143Leu
XM_011520629.2:c.427T>C	XP_011518931.1:p.Phe143Leu
XM_017019219.2:c.427T>C	XP_016874708.1:p.Phe143Leu
NM_000834.5:c.427T>C MANE Select	NP_000825.2:p.Phe143Leu