Canonical Allele Identifier: CA6461248

Gene: GRIN2B

Linked Data

• dbSNP Id: rs763436882
• ExAC: 12:13768469 A / G
• gnomAD v2: 12-13768469-A-G
• gnomAD v3: 12-13615535-A-G
• gnomAD v4: 12-13615535-A-G
• MyVariant Identifiers: chr12:g.13768469A>G (hg19) ; chr12:g.13615535A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615535A>G , CM000674.2:g.13615535A>G	GRCh38
NC_000012.11:g.13768469A>G , CM000674.1:g.13768469A>G	GRCh37
NC_000012.10:g.13659736A>G	NCBI36
NG_031854.1:g.369554T>C
NG_031854.2:g.371478T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1458T>C MANE Select	ENSP00000477455.1:p.His486=
ENST00000609686.3:c.1458T>C	ENSP00000477455.1:p.His486=
NM_000834.3:c.1458T>C	NP_000825.2:p.His486=
XM_011520628.1:c.1458T>C	XP_011518930.1:p.His486=
XM_011520629.1:c.1458T>C	XP_011518931.1:p.His486=
XM_011520630.1:c.1458T>C	XP_011518932.1:p.His486=
XR_931372.1:n.307+309A>G
XR_931373.1:n.447+309A>G
XR_931374.1:n.246+309A>G
NM_000834.4:c.1458T>C	NP_000825.2:p.His486=
XM_011520628.2:c.1458T>C	XP_011518930.1:p.His486=
XM_011520629.2:c.1458T>C	XP_011518931.1:p.His486=
XM_017019219.2:c.1458T>C	XP_016874708.1:p.His486=
XR_001749013.1:n.728+309A>G
XR_931372.2:n.444+309A>G
XR_931373.2:n.586+309A>G
NM_000834.5:c.1458T>C MANE Select	NP_000825.2:p.His486=