Canonical Allele Identifier: CA478771667

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 858509
• ClinVar RCV Id: RCV001064394
• dbSNP Id: rs1949369008
• MyVariant Identifiers: chr12:g.13764765T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611831T>C , CM000674.2:g.13611831T>C	GRCh38
NC_000012.11:g.13764765T>C , CM000674.1:g.13764765T>C	GRCh37
NC_000012.10:g.13656032T>C	NCBI36
NG_031854.1:g.373258A>G
NG_031854.2:g.375182A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1674A>G MANE Select	ENSP00000477455.1:p.Val558=
ENST00000609686.3:c.1674A>G	ENSP00000477455.1:p.Val558=
NM_000834.3:c.1674A>G	NP_000825.2:p.Val558=
XM_011520628.1:c.1674A>G	XP_011518930.1:p.Val558=
XM_011520629.1:c.1674A>G	XP_011518931.1:p.Val558=
XM_011520630.1:c.1674A>G	XP_011518932.1:p.Val558=
XR_931372.1:n.179-3267T>C
XR_931373.1:n.318+3074T>C
XR_931374.1:n.117+1231T>C
NM_000834.4:c.1674A>G	NP_000825.2:p.Val558=
XM_011520628.2:c.1674A>G	XP_011518930.1:p.Val558=
XM_011520629.2:c.1674A>G	XP_011518931.1:p.Val558=
XM_017019219.2:c.1674A>G	XP_016874708.1:p.Val558=
XR_001749013.1:n.599+1231T>C
XR_931372.2:n.316-3267T>C
XR_931373.2:n.457+3074T>C
NM_000834.5:c.1674A>G MANE Select	NP_000825.2:p.Val558=