Canonical Allele Identifier: CA384051608

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 984850
• ClinVar RCV Id: RCV001265380
• dbSNP Id: rs1949368959
• MyVariant Identifiers: chr12:g.13764764A>T (hg19) ; chr12:g.13611830A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611830A>T , CM000674.2:g.13611830A>T	GRCh38
NC_000012.11:g.13764764A>T , CM000674.1:g.13764764A>T	GRCh37
NC_000012.10:g.13656031A>T	NCBI36
NG_031854.1:g.373259T>A
NG_031854.2:g.375183T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1675T>A MANE Select	ENSP00000477455.1:p.Trp559Arg
ENST00000609686.3:c.1675T>A	ENSP00000477455.1:p.Trp559Arg
NM_000834.3:c.1675T>A	NP_000825.2:p.Trp559Arg
XM_011520628.1:c.1675T>A	XP_011518930.1:p.Trp559Arg
XM_011520629.1:c.1675T>A	XP_011518931.1:p.Trp559Arg
XM_011520630.1:c.1675T>A	XP_011518932.1:p.Trp559Arg
XR_931372.1:n.179-3268A>T
XR_931373.1:n.318+3073A>T
XR_931374.1:n.117+1230A>T
NM_000834.4:c.1675T>A	NP_000825.2:p.Trp559Arg
XM_011520628.2:c.1675T>A	XP_011518930.1:p.Trp559Arg
XM_011520629.2:c.1675T>A	XP_011518931.1:p.Trp559Arg
XM_017019219.2:c.1675T>A	XP_016874708.1:p.Trp559Arg
XR_001749013.1:n.599+1230A>T
XR_931372.2:n.316-3268A>T
XR_931373.2:n.457+3073A>T
NM_000834.5:c.1675T>A MANE Select	NP_000825.2:p.Trp559Arg