Canonical Allele Identifier: CA383998989

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13571840-C-T
• MyVariant Identifiers: chr12:g.13724774C>T (hg19) ; chr12:g.13571840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571840C>T , CM000674.2:g.13571840C>T	GRCh38
NC_000012.11:g.13724774C>T , CM000674.1:g.13724774C>T	GRCh37
NC_000012.10:g.13616041C>T	NCBI36
NG_031854.1:g.413249G>A
NG_031854.2:g.415173G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2135G>A MANE Select	ENSP00000477455.1:p.Arg712Lys
ENST00000628166.2:n.395G>A
ENST00000637214.1:c.69+36763G>A	ENSP00000489997.1:n.69+36763G>A
ENST00000609686.3:c.2135G>A	ENSP00000477455.1:p.Arg712Lys
ENST00000628166.1:n.395G>A
NM_000834.3:c.2135G>A	NP_000825.2:p.Arg712Lys
XM_005253351.2:c.-43-1823G>A	XP_005253408.1:n.-43-1823G>A
XM_011520628.1:c.2135G>A	XP_011518930.1:p.Arg712Lys
XM_011520629.1:c.2135G>A	XP_011518931.1:p.Arg712Lys
XM_011520630.1:c.2135G>A	XP_011518932.1:p.Arg712Lys
NM_000834.4:c.2135G>A	NP_000825.2:p.Arg712Lys
XM_005253351.3:c.-43-1823G>A	XP_005253408.1:n.-43-1823G>A
XM_011520628.2:c.2135G>A	XP_011518930.1:p.Arg712Lys
XM_011520629.2:c.2135G>A	XP_011518931.1:p.Arg712Lys
XM_017019219.2:c.2135G>A	XP_016874708.1:p.Arg712Lys
NM_000834.5:c.2135G>A MANE Select	NP_000825.2:p.Arg712Lys