Canonical Allele Identifier: CA384053736

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1285562
• ClinVar RCV Id: RCV001706919 ; RCV003771861 ; RCV004526140
• dbSNP Id: rs2136629212
• MyVariant Identifiers: chr12:g.13906543T>C (hg19) ; chr12:g.13753609T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753609T>C , CM000674.2:g.13753609T>C	GRCh38
NC_000012.11:g.13906543T>C , CM000674.1:g.13906543T>C	GRCh37
NC_000012.10:g.13797810T>C	NCBI36
NG_031854.1:g.231480A>G
NG_031854.2:g.233404A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.718A>G MANE Select	ENSP00000477455.1:p.Ile240Val
ENST00000630791.2:c.718A>G	ENSP00000486677.2:p.Ile240Val
ENST00000609686.3:c.718A>G	ENSP00000477455.1:p.Ile240Val
NM_000834.3:c.718A>G	NP_000825.2:p.Ile240Val
XM_011520628.1:c.718A>G	XP_011518930.1:p.Ile240Val
XM_011520629.1:c.718A>G	XP_011518931.1:p.Ile240Val
XM_011520630.1:c.718A>G	XP_011518932.1:p.Ile240Val
NM_000834.4:c.718A>G	NP_000825.2:p.Ile240Val
XM_011520628.2:c.718A>G	XP_011518930.1:p.Ile240Val
XM_011520629.2:c.718A>G	XP_011518931.1:p.Ile240Val
XM_017019219.2:c.718A>G	XP_016874708.1:p.Ile240Val
NM_000834.5:c.718A>G MANE Select	NP_000825.2:p.Ile240Val