Canonical Allele Identifier: CA478848552

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1200905643
• gnomAD v4: 12-13564106-G-A
• MyVariant Identifiers: chr12:g.13717040G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564106G>A , CM000674.2:g.13564106G>A	GRCh38
NC_000012.11:g.13717040G>A , CM000674.1:g.13717040G>A	GRCh37
NC_000012.10:g.13608307G>A	NCBI36
NG_031854.1:g.420983C>T
NG_031854.2:g.422907C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3132C>T MANE Select	ENSP00000477455.1:p.Phe1044=
ENST00000637214.1:c.69+44497C>T	ENSP00000489997.1:n.69+44497C>T
ENST00000609686.3:c.3132C>T	ENSP00000477455.1:p.Phe1044=
ENST00000628166.1:n.1392C>T
NM_000834.3:c.3132C>T	NP_000825.2:p.Phe1044=
XM_005253351.2:c.918C>T	XP_005253408.1:p.Phe306=
XM_011520628.1:c.3132C>T	XP_011518930.1:p.Phe1044=
XM_011520629.1:c.3132C>T	XP_011518931.1:p.Phe1044=
XM_011520630.1:c.3132C>T	XP_011518932.1:p.Phe1044=
NM_000834.4:c.3132C>T	NP_000825.2:p.Phe1044=
XM_005253351.3:c.918C>T	XP_005253408.1:p.Phe306=
XM_011520628.2:c.3132C>T	XP_011518930.1:p.Phe1044=
XM_011520629.2:c.3132C>T	XP_011518931.1:p.Phe1044=
XM_017019219.2:c.3132C>T	XP_016874708.1:p.Phe1044=
NM_000834.5:c.3132C>T MANE Select	NP_000825.2:p.Phe1044=