Canonical Allele Identifier: CA383985888

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 435384
• ClinVar RCV Id: RCV000503060 ; RCV001522689
• dbSNP Id: rs1314346300
• gnomAD v3: 12-13563003-G-T
• gnomAD v4: 12-13563003-G-T
• MyVariant Identifiers: chr12:g.13715937G>T (hg19) ; chr12:g.13563003G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13563003G>T , CM000674.2:g.13563003G>T	GRCh38
NC_000012.11:g.13715937G>T , CM000674.1:g.13715937G>T	GRCh37
NC_000012.10:g.13607204G>T	NCBI36
NG_031854.1:g.422086C>A
NG_031854.2:g.424010C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.4235C>A MANE Select	ENSP00000477455.1:p.Ala1412Glu
ENST00000637214.1:c.69+45600C>A	ENSP00000489997.1:n.69+45600C>A
ENST00000609686.3:c.4235C>A	ENSP00000477455.1:p.Ala1412Glu
ENST00000628166.1:n.2495C>A
NM_000834.3:c.4235C>A	NP_000825.2:p.Ala1412Glu
XM_005253351.2:c.2021C>A	XP_005253408.1:p.Ala674Glu
XM_011520628.1:c.4235C>A	XP_011518930.1:p.Ala1412Glu
XM_011520629.1:c.4235C>A	XP_011518931.1:p.Ala1412Glu
XM_011520630.1:c.4235C>A	XP_011518932.1:p.Ala1412Glu
NM_000834.4:c.4235C>A	NP_000825.2:p.Ala1412Glu
XM_005253351.3:c.2021C>A	XP_005253408.1:p.Ala674Glu
XM_011520628.2:c.4235C>A	XP_011518930.1:p.Ala1412Glu
XM_011520629.2:c.4235C>A	XP_011518931.1:p.Ala1412Glu
XM_017019219.2:c.4235C>A	XP_016874708.1:p.Ala1412Glu
NM_000834.5:c.4235C>A MANE Select	NP_000825.2:p.Ala1412Glu