Canonical Allele Identifier: CA383998785

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13724747A>C (hg19) ; chr12:g.13571813A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571813A>C , CM000674.2:g.13571813A>C	GRCh38
NC_000012.11:g.13724747A>C , CM000674.1:g.13724747A>C	GRCh37
NC_000012.10:g.13616014A>C	NCBI36
NG_031854.1:g.413276T>G
NG_031854.2:g.415200T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2162T>G MANE Select	ENSP00000477455.1:p.Leu721Arg
ENST00000628166.2:n.422T>G
ENST00000637214.1:c.69+36790T>G	ENSP00000489997.1:n.69+36790T>G
ENST00000609686.3:c.2162T>G	ENSP00000477455.1:p.Leu721Arg
ENST00000628166.1:n.422T>G
NM_000834.3:c.2162T>G	NP_000825.2:p.Leu721Arg
XM_005253351.2:c.-43-1796T>G	XP_005253408.1:n.-43-1796T>G
XM_011520628.1:c.2162T>G	XP_011518930.1:p.Leu721Arg
XM_011520629.1:c.2162T>G	XP_011518931.1:p.Leu721Arg
XM_011520630.1:c.2162T>G	XP_011518932.1:p.Leu721Arg
NM_000834.4:c.2162T>G	NP_000825.2:p.Leu721Arg
XM_005253351.3:c.-43-1796T>G	XP_005253408.1:n.-43-1796T>G
XM_011520628.2:c.2162T>G	XP_011518930.1:p.Leu721Arg
XM_011520629.2:c.2162T>G	XP_011518931.1:p.Leu721Arg
XM_017019219.2:c.2162T>G	XP_016874708.1:p.Leu721Arg
NM_000834.5:c.2162T>G MANE Select	NP_000825.2:p.Leu721Arg