Canonical Allele Identifier: CA478704226

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2922026
• ClinVar RCV Id: RCV003783048
• MyVariant Identifiers: chr12:g.13724746C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571812C>T , CM000674.2:g.13571812C>T	GRCh38
NC_000012.11:g.13724746C>T , CM000674.1:g.13724746C>T	GRCh37
NC_000012.10:g.13616013C>T	NCBI36
NG_031854.1:g.413277G>A
NG_031854.2:g.415201G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2163G>A MANE Select	ENSP00000477455.1:p.Leu721=
ENST00000628166.2:n.423G>A
ENST00000637214.1:c.69+36791G>A	ENSP00000489997.1:n.69+36791G>A
ENST00000609686.3:c.2163G>A	ENSP00000477455.1:p.Leu721=
ENST00000628166.1:n.423G>A
NM_000834.3:c.2163G>A	NP_000825.2:p.Leu721=
XM_005253351.2:c.-43-1795G>A	XP_005253408.1:n.-43-1795G>A
XM_011520628.1:c.2163G>A	XP_011518930.1:p.Leu721=
XM_011520629.1:c.2163G>A	XP_011518931.1:p.Leu721=
XM_011520630.1:c.2163G>A	XP_011518932.1:p.Leu721=
NM_000834.4:c.2163G>A	NP_000825.2:p.Leu721=
XM_005253351.3:c.-43-1795G>A	XP_005253408.1:n.-43-1795G>A
XM_011520628.2:c.2163G>A	XP_011518930.1:p.Leu721=
XM_011520629.2:c.2163G>A	XP_011518931.1:p.Leu721=
XM_017019219.2:c.2163G>A	XP_016874708.1:p.Leu721=
NM_000834.5:c.2163G>A MANE Select	NP_000825.2:p.Leu721=