Canonical Allele Identifier: CA478772795

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1100536
• ClinVar RCV Id: RCV001423171
• dbSNP Id: rs1253357396
• gnomAD v2: 12-13768106-T-C
• gnomAD v4: 12-13615172-T-C
• MyVariant Identifiers: chr12:g.13768106T>C (hg19) ; chr12:g.13615172T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615172T>C , CM000674.2:g.13615172T>C	GRCh38
NC_000012.11:g.13768106T>C , CM000674.1:g.13768106T>C	GRCh37
NC_000012.10:g.13659373T>C	NCBI36
NG_031854.1:g.369917A>G
NG_031854.2:g.371841A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1596A>G MANE Select	ENSP00000477455.1:p.Thr532=
ENST00000609686.3:c.1596A>G	ENSP00000477455.1:p.Thr532=
NM_000834.3:c.1596A>G	NP_000825.2:p.Thr532=
XM_011520628.1:c.1596A>G	XP_011518930.1:p.Thr532=
XM_011520629.1:c.1596A>G	XP_011518931.1:p.Thr532=
XM_011520630.1:c.1596A>G	XP_011518932.1:p.Thr532=
XR_931372.1:n.253T>C
XR_931373.1:n.393T>C
XR_931374.1:n.192T>C
NM_000834.4:c.1596A>G	NP_000825.2:p.Thr532=
XM_011520628.2:c.1596A>G	XP_011518930.1:p.Thr532=
XM_011520629.2:c.1596A>G	XP_011518931.1:p.Thr532=
XM_017019219.2:c.1596A>G	XP_016874708.1:p.Thr532=
XR_001749013.1:n.674T>C
XR_931372.2:n.390T>C
XR_931373.2:n.532T>C
NM_000834.5:c.1596A>G MANE Select	NP_000825.2:p.Thr532=