Allele Registry

Canonical Allele Identifier: CA10577440

Gene: GRIN2B HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr12:g.13564310_13564312del

GRCh37 chr12:g.13717244_13717246del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000223164

RCV001172341

ClinVar Variation:

234587

dbSNP:

876661102

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564311_13564313del , CM000674.2:g.13564311_13564313del	GRCh38
NC_000012.11:g.13717245_13717247del , CM000674.1:g.13717245_13717247del	GRCh37
NC_000012.10:g.13608512_13608514del	NCBI36
NG_031854.1:g.420777_420779del
NG_031854.2:g.422701_422703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2926_2928del MANE Select	ENSP00000477455.1:p.Lys976del
ENST00000637214.1:c.69+44291_69+44293del	ENSP00000489997.1:n.69+44291_69+44293del
ENST00000609686.3:c.2926_2928del	ENSP00000477455.1:p.Lys976del
ENST00000628166.1:n.1186_1188del
NM_000834.3:c.2926_2928del	NP_000825.2:p.Lys976del
XM_005253351.2:c.712_714del	XP_005253408.1:p.Lys238del
XM_011520628.1:c.2926_2928del	XP_011518930.1:p.Lys976del
XM_011520629.1:c.2926_2928del	XP_011518931.1:p.Lys976del
XM_011520630.1:c.2926_2928del	XP_011518932.1:p.Lys976del
NM_000834.4:c.2926_2928del	NP_000825.2:p.Lys976del
XM_005253351.3:c.712_714del	XP_005253408.1:p.Lys238del
XM_011520628.2:c.2926_2928del	XP_011518930.1:p.Lys976del
XM_011520629.2:c.2926_2928del	XP_011518931.1:p.Lys976del
XM_017019219.2:c.2926_2928del	XP_016874708.1:p.Lys976del
NM_000834.5:c.2926_2928del MANE Select	NP_000825.2:p.Lys976del

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