Canonical Allele Identifier: CA233148033

Gene: GRIN2B

Linked Data

• dbSNP Id: rs957210889
• gnomAD v2: 12-14019219-G-T
• gnomAD v3: 12-13866285-G-T
• gnomAD v4: 12-13866285-G-T
• MyVariant Identifiers: chr12:g.14019219G>T (hg19) ; chr12:g.13866285G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866285G>T , CM000674.2:g.13866285G>T	GRCh38
NC_000012.11:g.14019219G>T , CM000674.1:g.14019219G>T	GRCh37
NC_000012.10:g.13910486G>T	NCBI36
NG_031854.1:g.118804C>A
NG_031854.2:g.120728C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.-18-59C>A MANE Select	ENSP00000477455.1:n.-18-59C>A
ENST00000630791.2:c.-18-59C>A	ENSP00000486677.2:n.-18-59C>A
ENST00000609686.3:c.-18-59C>A	ENSP00000477455.1:n.-18-59C>A
ENST00000627535.2:c.-18-59C>A	ENSP00000486411.1:n.-18-59C>A
ENST00000630791.1:c.-18-59C>A	ENSP00000486677.1:n.-18-59C>A
NM_000834.3:c.-18-59C>A	NP_000825.2:n.-18-59C>A
XM_011520628.1:c.-18-59C>A	XP_011518930.1:n.-18-59C>A
XM_011520629.1:c.-18-59C>A	XP_011518931.1:n.-18-59C>A
XM_011520630.1:c.-18-59C>A	XP_011518932.1:n.-18-59C>A
NM_000834.4:c.-18-59C>A	NP_000825.2:n.-18-59C>A
XM_011520628.2:c.-18-59C>A	XP_011518930.1:n.-18-59C>A
XM_011520629.2:c.-18-59C>A	XP_011518931.1:n.-18-59C>A
XM_017019219.2:c.-18-59C>A	XP_016874708.1:n.-18-59C>A
NM_000834.5:c.-18-59C>A MANE Select	NP_000825.2:n.-18-59C>A