Canonical Allele Identifier: CA233115920

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 429966
• ClinVar RCV Id: RCV000493024 ; RCV001085323
• dbSNP Id: rs201672517
• gnomAD v2: 12-13906582-T-C
• gnomAD v3: 12-13753648-T-C
• gnomAD v4: 12-13753648-T-C
• MyVariant Identifiers: chr12:g.13906582T>C (hg19) ; chr12:g.13753648T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753648T>C , CM000674.2:g.13753648T>C	GRCh38
NC_000012.11:g.13906582T>C , CM000674.1:g.13906582T>C	GRCh37
NC_000012.10:g.13797849T>C	NCBI36
NG_031854.1:g.231441A>G
NG_031854.2:g.233365A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.679A>G MANE Select	ENSP00000477455.1:p.Ile227Val
ENST00000630791.2:c.679A>G	ENSP00000486677.2:p.Ile227Val
ENST00000609686.3:c.679A>G	ENSP00000477455.1:p.Ile227Val
NM_000834.3:c.679A>G	NP_000825.2:p.Ile227Val
XM_011520628.1:c.679A>G	XP_011518930.1:p.Ile227Val
XM_011520629.1:c.679A>G	XP_011518931.1:p.Ile227Val
XM_011520630.1:c.679A>G	XP_011518932.1:p.Ile227Val
NM_000834.4:c.679A>G	NP_000825.2:p.Ile227Val
XM_011520628.2:c.679A>G	XP_011518930.1:p.Ile227Val
XM_011520629.2:c.679A>G	XP_011518931.1:p.Ile227Val
XM_017019219.2:c.679A>G	XP_016874708.1:p.Ile227Val
NM_000834.5:c.679A>G MANE Select	NP_000825.2:p.Ile227Val