Canonical Allele Identifier: CA291131

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 137518
• ClinVar RCV Id: RCV000535546 ; RCV000125325 ; RCV002316374
• dbSNP Id: rs141031272
• ExAC: 12:13768589 T / C
• gnomAD v2: 12-13768589-T-C
• gnomAD v3: 12-13615655-T-C
• gnomAD v4: 12-13615655-T-C
• MyVariant Identifiers: chr12:g.13768589T>C (hg19) ; chr12:g.13615655T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615655T>C , CM000674.2:g.13615655T>C	GRCh38
NC_000012.11:g.13768589T>C , CM000674.1:g.13768589T>C	GRCh37
NC_000012.10:g.13659856T>C	NCBI36
NG_031854.1:g.369434A>G
NG_031854.2:g.371358A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1338A>G MANE Select	ENSP00000477455.1:p.Thr446=
ENST00000630791.2:c.1338A>G	ENSP00000486677.2:p.Thr446=
ENST00000609686.3:c.1338A>G	ENSP00000477455.1:p.Thr446=
NM_000834.3:c.1338A>G	NP_000825.2:p.Thr446=
XM_011520628.1:c.1338A>G	XP_011518930.1:p.Thr446=
XM_011520629.1:c.1338A>G	XP_011518931.1:p.Thr446=
XM_011520630.1:c.1338A>G	XP_011518932.1:p.Thr446=
XR_931372.1:n.307+429T>C
XR_931373.1:n.447+429T>C
XR_931374.1:n.246+429T>C
NM_000834.4:c.1338A>G	NP_000825.2:p.Thr446=
XM_011520628.2:c.1338A>G	XP_011518930.1:p.Thr446=
XM_011520629.2:c.1338A>G	XP_011518931.1:p.Thr446=
XM_017019219.2:c.1338A>G	XP_016874708.1:p.Thr446=
XR_001749013.1:n.728+429T>C
XR_931372.2:n.444+429T>C
XR_931373.2:n.586+429T>C
NM_000834.5:c.1338A>G MANE Select	NP_000825.2:p.Thr446=