Canonical Allele Identifier: CA384051016

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1394652
• ClinVar RCV Id: RCV001900955 ; RCV003314706
• dbSNP Id: rs2136470299
• MyVariant Identifiers: chr12:g.13761617C>T (hg19) ; chr12:g.13608683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608683C>T , CM000674.2:g.13608683C>T	GRCh38
NC_000012.11:g.13761617C>T , CM000674.1:g.13761617C>T	GRCh37
NC_000012.10:g.13652884C>T	NCBI36
NG_031854.1:g.376406G>A
NG_031854.2:g.378330G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1930G>A MANE Select	ENSP00000477455.1:p.Ala644Thr
ENST00000628166.2:n.190G>A
ENST00000609686.3:c.1930G>A	ENSP00000477455.1:p.Ala644Thr
ENST00000628166.1:n.190G>A
NM_000834.3:c.1930G>A	NP_000825.2:p.Ala644Thr
XM_011520628.1:c.1930G>A	XP_011518930.1:p.Ala644Thr
XM_011520629.1:c.1930G>A	XP_011518931.1:p.Ala644Thr
XM_011520630.1:c.1930G>A	XP_011518932.1:p.Ala644Thr
XR_931372.1:n.179-6415C>T
XR_931373.1:n.244C>T
NM_000834.4:c.1930G>A	NP_000825.2:p.Ala644Thr
XM_011520628.2:c.1930G>A	XP_011518930.1:p.Ala644Thr
XM_011520629.2:c.1930G>A	XP_011518931.1:p.Ala644Thr
XM_017019219.2:c.1930G>A	XP_016874708.1:p.Ala644Thr
XR_001749013.1:n.383C>T
XR_931372.2:n.316-6415C>T
XR_931373.2:n.383C>T
NM_000834.5:c.1930G>A MANE Select	NP_000825.2:p.Ala644Thr