Canonical Allele Identifier: CA233131991

Gene: GRIN2B

Linked Data

• dbSNP Id: rs113686798
• gnomAD v3: 12-13562336-C-T
• gnomAD v4: 12-13562336-C-T
• MyVariant Identifiers: chr12:g.13715270C>T (hg19) ; chr12:g.13562336C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562336C>T , CM000674.2:g.13562336C>T	GRCh38
NC_000012.11:g.13715270C>T , CM000674.1:g.13715270C>T	GRCh37
NC_000012.10:g.13606537C>T	NCBI36
NG_031854.1:g.422753G>A
NG_031854.2:g.424677G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*447G>A MANE Select	ENSP00000477455.1:n.*447G>A
ENST00000637214.1:c.69+46267G>A	ENSP00000489997.1:n.69+46267G>A
ENST00000609686.3:c.*447G>A	ENSP00000477455.1:n.*447G>A
NM_000834.3:c.*447G>A	NP_000825.2:n.*447G>A
XM_005253351.2:c.*447G>A	XP_005253408.1:n.*447G>A
XM_011520628.1:c.*447G>A	XP_011518930.1:n.*447G>A
XM_011520629.1:c.*447G>A	XP_011518931.1:n.*447G>A
XM_011520630.1:c.*447G>A	XP_011518932.1:n.*447G>A
NM_000834.4:c.*447G>A	NP_000825.2:n.*447G>A
XM_005253351.3:c.*447G>A	XP_005253408.1:n.*447G>A
XM_011520628.2:c.*447G>A	XP_011518930.1:n.*447G>A
XM_011520629.2:c.*447G>A	XP_011518931.1:n.*447G>A
XM_017019219.2:c.*447G>A	XP_016874708.1:n.*447G>A
NM_000834.5:c.*447G>A MANE Select	NP_000825.2:n.*447G>A