Canonical Allele Identifier: CA233010391

Gene: GRIN2B

Linked Data

• dbSNP Id: rs975105793
• gnomAD v3: 12-13611756-C-T
• gnomAD v4: 12-13611756-C-T
• MyVariant Identifiers: chr12:g.13764690C>T (hg19) ; chr12:g.13611756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611756C>T , CM000674.2:g.13611756C>T	GRCh38
NC_000012.11:g.13764690C>T , CM000674.1:g.13764690C>T	GRCh37
NC_000012.10:g.13655957C>T	NCBI36
NG_031854.1:g.373333G>A
NG_031854.2:g.375257G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1749G>A MANE Select	ENSP00000477455.1:p.Val583=
ENST00000609686.3:c.1749G>A	ENSP00000477455.1:p.Val583=
NM_000834.3:c.1749G>A	NP_000825.2:p.Val583=
XM_011520628.1:c.1749G>A	XP_011518930.1:p.Val583=
XM_011520629.1:c.1749G>A	XP_011518931.1:p.Val583=
XM_011520630.1:c.1749G>A	XP_011518932.1:p.Val583=
XR_931372.1:n.179-3342C>T
XR_931373.1:n.318+2999C>T
XR_931374.1:n.117+1156C>T
NM_000834.4:c.1749G>A	NP_000825.2:p.Val583=
XM_011520628.2:c.1749G>A	XP_011518930.1:p.Val583=
XM_011520629.2:c.1749G>A	XP_011518931.1:p.Val583=
XM_017019219.2:c.1749G>A	XP_016874708.1:p.Val583=
XR_001749013.1:n.599+1156C>T
XR_931372.2:n.316-3342C>T
XR_931373.2:n.457+2999C>T
NM_000834.5:c.1749G>A MANE Select	NP_000825.2:p.Val583=