Canonical Allele Identifier: CA384051047

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 985189
• ClinVar RCV Id: RCV001265965
• dbSNP Id: rs1949320609
• MyVariant Identifiers: chr12:g.13761625A>G (hg19) ; chr12:g.13608691A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608691A>G , CM000674.2:g.13608691A>G	GRCh38
NC_000012.11:g.13761625A>G , CM000674.1:g.13761625A>G	GRCh37
NC_000012.10:g.13652892A>G	NCBI36
NG_031854.1:g.376398T>C
NG_031854.2:g.378322T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1922T>C MANE Select	ENSP00000477455.1:p.Ile641Thr
ENST00000628166.2:n.182T>C
ENST00000609686.3:c.1922T>C	ENSP00000477455.1:p.Ile641Thr
ENST00000628166.1:n.182T>C
NM_000834.3:c.1922T>C	NP_000825.2:p.Ile641Thr
XM_011520628.1:c.1922T>C	XP_011518930.1:p.Ile641Thr
XM_011520629.1:c.1922T>C	XP_011518931.1:p.Ile641Thr
XM_011520630.1:c.1922T>C	XP_011518932.1:p.Ile641Thr
XR_931372.1:n.179-6407A>G
XR_931373.1:n.252A>G
NM_000834.4:c.1922T>C	NP_000825.2:p.Ile641Thr
XM_011520628.2:c.1922T>C	XP_011518930.1:p.Ile641Thr
XM_011520629.2:c.1922T>C	XP_011518931.1:p.Ile641Thr
XM_017019219.2:c.1922T>C	XP_016874708.1:p.Ile641Thr
XR_001749013.1:n.391A>G
XR_931372.2:n.316-6407A>G
XR_931373.2:n.391A>G
NM_000834.5:c.1922T>C MANE Select	NP_000825.2:p.Ile641Thr