Canonical Allele Identifier: CA383998967

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1313215
• ClinVar RCV Id: RCV001769166
• dbSNP Id: rs1454642871
• gnomAD v4: 12-13571837-C-A
• MyVariant Identifiers: chr12:g.13724771C>A (hg19) ; chr12:g.13571837C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571837C>A , CM000674.2:g.13571837C>A	GRCh38
NC_000012.11:g.13724771C>A , CM000674.1:g.13724771C>A	GRCh37
NC_000012.10:g.13616038C>A	NCBI36
NG_031854.1:g.413252G>T
NG_031854.2:g.415176G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2138G>T MANE Select	ENSP00000477455.1:p.Gly713Val
ENST00000628166.2:n.398G>T
ENST00000637214.1:c.69+36766G>T	ENSP00000489997.1:n.69+36766G>T
ENST00000609686.3:c.2138G>T	ENSP00000477455.1:p.Gly713Val
ENST00000628166.1:n.398G>T
NM_000834.3:c.2138G>T	NP_000825.2:p.Gly713Val
XM_005253351.2:c.-43-1820G>T	XP_005253408.1:n.-43-1820G>T
XM_011520628.1:c.2138G>T	XP_011518930.1:p.Gly713Val
XM_011520629.1:c.2138G>T	XP_011518931.1:p.Gly713Val
XM_011520630.1:c.2138G>T	XP_011518932.1:p.Gly713Val
NM_000834.4:c.2138G>T	NP_000825.2:p.Gly713Val
XM_005253351.3:c.-43-1820G>T	XP_005253408.1:n.-43-1820G>T
XM_011520628.2:c.2138G>T	XP_011518930.1:p.Gly713Val
XM_011520629.2:c.2138G>T	XP_011518931.1:p.Gly713Val
XM_017019219.2:c.2138G>T	XP_016874708.1:p.Gly713Val
NM_000834.5:c.2138G>T MANE Select	NP_000825.2:p.Gly713Val