Canonical Allele Identifier: CA2580085197

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2102348
• ClinVar RCV Id: RCV003019479
• gnomAD v4: 12-13570024-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13570026del , CM000674.2:g.13570026del	GRCh38
NC_000012.11:g.13722960del , CM000674.1:g.13722960del	GRCh37
NC_000012.10:g.13614227del	NCBI36
NG_031854.1:g.415064del
NG_031854.2:g.416988del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2172-8del MANE Select	ENSP00000477455.1:n.2172-8del
ENST00000628166.2:n.432-8del
ENST00000637214.1:c.69+38578del	ENSP00000489997.1:n.69+38578del
ENST00000609686.3:c.2172-8del	ENSP00000477455.1:n.2172-8del
ENST00000628166.1:n.432-8del
NM_000834.3:c.2172-8del	NP_000825.2:n.2172-8del
XM_005253351.2:c.-43-8del	XP_005253408.1:n.-43-8del
XM_011520628.1:c.2172-8del	XP_011518930.1:n.2172-8del
XM_011520629.1:c.2172-8del	XP_011518931.1:n.2172-8del
XM_011520630.1:c.2172-8del	XP_011518932.1:n.2172-8del
NM_000834.4:c.2172-8del	NP_000825.2:n.2172-8del
XM_005253351.3:c.-43-8del	XP_005253408.1:n.-43-8del
XM_011520628.2:c.2172-8del	XP_011518930.1:n.2172-8del
XM_011520629.2:c.2172-8del	XP_011518931.1:n.2172-8del
XM_017019219.2:c.2172-8del	XP_016874708.1:n.2172-8del
NM_000834.5:c.2172-8del MANE Select	NP_000825.2:n.2172-8del