Canonical Allele Identifier: CA315070

Gene: GRIN2B

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13567035del , CM000674.2:g.13567035del	GRCh38
NC_000012.11:g.13719969del , CM000674.1:g.13719969del	GRCh37
NC_000012.10:g.13611236del	NCBI36
NG_031854.1:g.418055del
NG_031854.2:g.419979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2589del MANE Select	ENSP00000477455.1:p.Ile864SerfsTer20
ENST00000637214.1:c.69+41569del	ENSP00000489997.1:n.69+41569del
ENST00000609686.3:c.2589del	ENSP00000477455.1:p.Ile864SerfsTer20
ENST00000628166.1:n.849del
NM_000834.3:c.2589del	NP_000825.2:p.Ile864SerfsTer20
XM_005253351.2:c.375del	XP_005253408.1:p.Ile126SerfsTer20
XM_011520628.1:c.2589del	XP_011518930.1:p.Ile864SerfsTer20
XM_011520629.1:c.2589del	XP_011518931.1:p.Ile864SerfsTer20
XM_011520630.1:c.2589del	XP_011518932.1:p.Ile864SerfsTer20
NM_000834.4:c.2589del	NP_000825.2:p.Ile864SerfsTer20
XM_005253351.3:c.375del	XP_005253408.1:p.Ile126SerfsTer20
XM_011520628.2:c.2589del	XP_011518930.1:p.Ile864SerfsTer20
XM_011520629.2:c.2589del	XP_011518931.1:p.Ile864SerfsTer20
XM_017019219.2:c.2589del	XP_016874708.1:p.Ile864SerfsTer20
NM_000834.5:c.2589del MANE Select	NP_000825.2:p.Ile864SerfsTer20