Canonical Allele Identifier: CA2740092329

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2948673
• ClinVar RCV Id: RCV003809447

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611835_13611840dup , CM000674.2:g.13611835_13611840dup	GRCh38
NC_000012.11:g.13764769_13764774dup , CM000674.1:g.13764769_13764774dup	GRCh37
NC_000012.10:g.13656036_13656041dup	NCBI36
NG_031854.1:g.373251_373256dup
NG_031854.2:g.375175_375180dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1667_1672dup MANE Select	ENSP00000477455.1:p.Asp557_Val558insAlaAs...
ENST00000609686.3:c.1667_1672dup	ENSP00000477455.1:p.Asp557_Val558insAlaAs...
NM_000834.3:c.1667_1672dup	NP_000825.2:p.Asp557_Val558insAlaAsp
XM_011520628.1:c.1667_1672dup	XP_011518930.1:p.Asp557_Val558insAlaAsp
XM_011520629.1:c.1667_1672dup	XP_011518931.1:p.Asp557_Val558insAlaAsp
XM_011520630.1:c.1667_1672dup	XP_011518932.1:p.Asp557_Val558insAlaAsp
XR_931372.1:n.179-3263_179-3258dup
XR_931373.1:n.318+3078_318+3083dup
XR_931374.1:n.117+1235_117+1240dup
NM_000834.4:c.1667_1672dup	NP_000825.2:p.Asp557_Val558insAlaAsp
XM_011520628.2:c.1667_1672dup	XP_011518930.1:p.Asp557_Val558insAlaAsp
XM_011520629.2:c.1667_1672dup	XP_011518931.1:p.Asp557_Val558insAlaAsp
XM_017019219.2:c.1667_1672dup	XP_016874708.1:p.Asp557_Val558insAlaAsp
XR_001749013.1:n.599+1235_599+1240dup
XR_931372.2:n.316-3263_316-3258dup
XR_931373.2:n.457+3078_457+3083dup
NM_000834.5:c.1667_1672dup MANE Select	NP_000825.2:p.Asp557_Val558insAlaAsp