Canonical Allele Identifier: CA354196

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 224086
• ClinVar RCV Id: RCV000209917 ; RCV000794240
• dbSNP Id: rs869312669
• MyVariant Identifiers: chr12:g.13724856T>G (hg19) ; chr12:g.13571922T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571922T>G , CM000674.2:g.13571922T>G	GRCh38
NC_000012.11:g.13724856T>G , CM000674.1:g.13724856T>G	GRCh37
NC_000012.10:g.13616123T>G	NCBI36
NG_031854.1:g.413167A>C
NG_031854.2:g.415091A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2053A>C MANE Select	ENSP00000477455.1:p.Thr685Pro
ENST00000628166.2:n.313A>C
ENST00000637214.1:c.69+36681A>C	ENSP00000489997.1:n.69+36681A>C
ENST00000609686.3:c.2053A>C	ENSP00000477455.1:p.Thr685Pro
ENST00000628166.1:n.313A>C
NM_000834.3:c.2053A>C	NP_000825.2:p.Thr685Pro
XM_005253351.2:c.-43-1905A>C	XP_005253408.1:n.-43-1905A>C
XM_011520628.1:c.2053A>C	XP_011518930.1:p.Thr685Pro
XM_011520629.1:c.2053A>C	XP_011518931.1:p.Thr685Pro
XM_011520630.1:c.2053A>C	XP_011518932.1:p.Thr685Pro
NM_000834.4:c.2053A>C	NP_000825.2:p.Thr685Pro
XM_005253351.3:c.-43-1905A>C	XP_005253408.1:n.-43-1905A>C
XM_011520628.2:c.2053A>C	XP_011518930.1:p.Thr685Pro
XM_011520629.2:c.2053A>C	XP_011518931.1:p.Thr685Pro
XM_017019219.2:c.2053A>C	XP_016874708.1:p.Thr685Pro
NM_000834.5:c.2053A>C MANE Select	NP_000825.2:p.Thr685Pro