Canonical Allele Identifier: CA383990791

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2951193
• ClinVar RCV Id: RCV003802455
• gnomAD v4: 12-13564111-A-G
• MyVariant Identifiers: chr12:g.13717045A>G (hg19) ; chr12:g.13564111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564111A>G , CM000674.2:g.13564111A>G	GRCh38
NC_000012.11:g.13717045A>G , CM000674.1:g.13717045A>G	GRCh37
NC_000012.10:g.13608312A>G	NCBI36
NG_031854.1:g.420978T>C
NG_031854.2:g.422902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3127T>C MANE Select	ENSP00000477455.1:p.Ser1043Pro
ENST00000637214.1:c.69+44492T>C	ENSP00000489997.1:n.69+44492T>C
ENST00000609686.3:c.3127T>C	ENSP00000477455.1:p.Ser1043Pro
ENST00000628166.1:n.1387T>C
NM_000834.3:c.3127T>C	NP_000825.2:p.Ser1043Pro
XM_005253351.2:c.913T>C	XP_005253408.1:p.Ser305Pro
XM_011520628.1:c.3127T>C	XP_011518930.1:p.Ser1043Pro
XM_011520629.1:c.3127T>C	XP_011518931.1:p.Ser1043Pro
XM_011520630.1:c.3127T>C	XP_011518932.1:p.Ser1043Pro
NM_000834.4:c.3127T>C	NP_000825.2:p.Ser1043Pro
XM_005253351.3:c.913T>C	XP_005253408.1:p.Ser305Pro
XM_011520628.2:c.3127T>C	XP_011518930.1:p.Ser1043Pro
XM_011520629.2:c.3127T>C	XP_011518931.1:p.Ser1043Pro
XM_017019219.2:c.3127T>C	XP_016874708.1:p.Ser1043Pro
NM_000834.5:c.3127T>C MANE Select	NP_000825.2:p.Ser1043Pro