Canonical Allele Identifier: CA384053276

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2942465
• ClinVar RCV Id: RCV003805679
• MyVariant Identifiers: chr12:g.13906399C>G (hg19) ; chr12:g.13753465C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753465C>G , CM000674.2:g.13753465C>G	GRCh38
NC_000012.11:g.13906399C>G , CM000674.1:g.13906399C>G	GRCh37
NC_000012.10:g.13797666C>G	NCBI36
NG_031854.1:g.231624G>C
NG_031854.2:g.233548G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.862G>C MANE Select	ENSP00000477455.1:p.Gly288Arg
ENST00000630791.2:c.862G>C	ENSP00000486677.2:p.Gly288Arg
ENST00000609686.3:c.862G>C	ENSP00000477455.1:p.Gly288Arg
NM_000834.3:c.862G>C	NP_000825.2:p.Gly288Arg
XM_011520628.1:c.862G>C	XP_011518930.1:p.Gly288Arg
XM_011520629.1:c.862G>C	XP_011518931.1:p.Gly288Arg
XM_011520630.1:c.862G>C	XP_011518932.1:p.Gly288Arg
NM_000834.4:c.862G>C	NP_000825.2:p.Gly288Arg
XM_011520628.2:c.862G>C	XP_011518930.1:p.Gly288Arg
XM_011520629.2:c.862G>C	XP_011518931.1:p.Gly288Arg
XM_017019219.2:c.862G>C	XP_016874708.1:p.Gly288Arg
NM_000834.5:c.862G>C MANE Select	NP_000825.2:p.Gly288Arg