Canonical Allele Identifier: CA603378200

Gene: GRIN2B

Linked Data

• dbSNP Id: rs71539419
• gnomAD v2: 12-13715432-C-G
• gnomAD v3: 12-13562498-C-G
• gnomAD v4: 12-13562498-C-G
• MyVariant Identifiers: chr12:g.13715432C>G (hg19) ; chr12:g.13562498C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562498C>G , CM000674.2:g.13562498C>G	GRCh38
NC_000012.11:g.13715432C>G , CM000674.1:g.13715432C>G	GRCh37
NC_000012.10:g.13606699C>G	NCBI36
NG_031854.1:g.422591G>C
NG_031854.2:g.424515G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*285G>C MANE Select	ENSP00000477455.1:n.*285G>C
ENST00000637214.1:c.69+46105G>C	ENSP00000489997.1:n.69+46105G>C
ENST00000609686.3:c.*285G>C	ENSP00000477455.1:n.*285G>C
NM_000834.3:c.*285G>C	NP_000825.2:n.*285G>C
XM_005253351.2:c.*285G>C	XP_005253408.1:n.*285G>C
XM_011520628.1:c.*285G>C	XP_011518930.1:n.*285G>C
XM_011520629.1:c.*285G>C	XP_011518931.1:n.*285G>C
XM_011520630.1:c.*285G>C	XP_011518932.1:n.*285G>C
NM_000834.4:c.*285G>C	NP_000825.2:n.*285G>C
XM_005253351.3:c.*285G>C	XP_005253408.1:n.*285G>C
XM_011520628.2:c.*285G>C	XP_011518930.1:n.*285G>C
XM_011520629.2:c.*285G>C	XP_011518931.1:n.*285G>C
XM_017019219.2:c.*285G>C	XP_016874708.1:n.*285G>C
NM_000834.5:c.*285G>C MANE Select	NP_000825.2:n.*285G>C