Canonical Allele Identifier: CA603378188

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1174379053
• gnomAD v2: 12-13715195-G-A
• gnomAD v3: 12-13562261-G-A
• gnomAD v4: 12-13562261-G-A
• MyVariant Identifiers: chr12:g.13715195G>A (hg19) ; chr12:g.13562261G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562261G>A , CM000674.2:g.13562261G>A	GRCh38
NC_000012.11:g.13715195G>A , CM000674.1:g.13715195G>A	GRCh37
NC_000012.10:g.13606462G>A	NCBI36
NG_031854.1:g.422828C>T
NG_031854.2:g.424752C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*522C>T MANE Select	ENSP00000477455.1:n.*522C>T
ENST00000636207.1:n.31C>T
ENST00000637214.1:c.69+46342C>T	ENSP00000489997.1:n.69+46342C>T
ENST00000609686.3:c.*522C>T	ENSP00000477455.1:n.*522C>T
NM_000834.3:c.*522C>T	NP_000825.2:n.*522C>T
XM_005253351.2:c.*522C>T	XP_005253408.1:n.*522C>T
XM_011520628.1:c.*522C>T	XP_011518930.1:n.*522C>T
XM_011520629.1:c.*522C>T	XP_011518931.1:n.*522C>T
XM_011520630.1:c.*522C>T	XP_011518932.1:n.*522C>T
NM_000834.4:c.*522C>T	NP_000825.2:n.*522C>T
XM_005253351.3:c.*522C>T	XP_005253408.1:n.*522C>T
XM_011520628.2:c.*522C>T	XP_011518930.1:n.*522C>T
XM_011520629.2:c.*522C>T	XP_011518931.1:n.*522C>T
XM_017019219.2:c.*522C>T	XP_016874708.1:n.*522C>T
NM_000834.5:c.*522C>T MANE Select	NP_000825.2:n.*522C>T