Canonical Allele Identifier: CA645369587

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 429224
• ClinVar RCV Id: RCV000493160
• dbSNP Id: rs1131691268
• MyVariant Identifiers: chr12:g.13768484_13768487dup (hg19) ; chr12:g.13768483_13768484insAACC (hg19) ; chr12:g.13615550_13615553dup (hg38) ; chr12:g.13615549_13615550insAACC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615551_13615554dup , CM000674.2:g.13615551_13615554dup	GRCh38
NC_000012.11:g.13768485_13768488dup , CM000674.1:g.13768485_13768488dup	GRCh37
NC_000012.10:g.13659752_13659755dup	NCBI36
NG_031854.1:g.369536_369539dup
NG_031854.2:g.371460_371463dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1440_1443dup MANE Select	ENSP00000477455.1:p.Thr482GlyfsTer?
ENST00000609686.3:c.1440_1443dup	ENSP00000477455.1:p.Thr482GlyfsTer?
NM_000834.3:c.1440_1443dup	NP_000825.2:p.Thr482GlyfsTer?
XM_011520628.1:c.1440_1443dup	XP_011518930.1:p.Thr482GlyfsTer?
XM_011520629.1:c.1440_1443dup	XP_011518931.1:p.Thr482GlyfsTer?
XM_011520630.1:c.1440_1443dup	XP_011518932.1:p.Thr482GlyfsTer?
XR_931372.1:n.307+325_307+328dup
XR_931373.1:n.447+325_447+328dup
XR_931374.1:n.246+325_246+328dup
NM_000834.4:c.1440_1443dup	NP_000825.2:p.Thr482GlyfsTer?
XM_011520628.2:c.1440_1443dup	XP_011518930.1:p.Thr482GlyfsTer?
XM_011520629.2:c.1440_1443dup	XP_011518931.1:p.Thr482GlyfsTer?
XM_017019219.2:c.1440_1443dup	XP_016874708.1:p.Thr482GlyfsTer?
XR_001749013.1:n.728+325_728+328dup
XR_931372.2:n.444+325_444+328dup
XR_931373.2:n.586+325_586+328dup
NM_000834.5:c.1440_1443dup MANE Select	NP_000825.2:p.Thr482GlyfsTer?