Canonical Allele Identifier: CA685661627

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1290259277
• gnomAD v4: 12-13562568-GGAA-G
• MyVariant Identifiers: chr12:g.13715503_13715505del (hg19) ; chr12:g.13562569_13562571del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562573_13562575del , CM000674.2:g.13562573_13562575del	GRCh38
NC_000012.11:g.13715507_13715509del , CM000674.1:g.13715507_13715509del	GRCh37
NC_000012.10:g.13606774_13606776del	NCBI36
NG_031854.1:g.422518_422520del
NG_031854.2:g.424442_424444del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.*212_*214del MANE Select	ENSP00000477455.1:n.*212_*214del
ENST00000637214.1:c.69+46032_69+46034del	ENSP00000489997.1:n.69+46032_69+46034del
ENST00000609686.3:c.*212_*214del	ENSP00000477455.1:n.*212_*214del
NM_000834.3:c.*212_*214del	NP_000825.2:n.*212_*214del
XM_005253351.2:c.*212_*214del	XP_005253408.1:n.*212_*214del
XM_011520628.1:c.*212_*214del	XP_011518930.1:n.*212_*214del
XM_011520629.1:c.*212_*214del	XP_011518931.1:n.*212_*214del
XM_011520630.1:c.*212_*214del	XP_011518932.1:n.*212_*214del
NM_000834.4:c.*212_*214del	NP_000825.2:n.*212_*214del
XM_005253351.3:c.*212_*214del	XP_005253408.1:n.*212_*214del
XM_011520628.2:c.*212_*214del	XP_011518930.1:n.*212_*214del
XM_011520629.2:c.*212_*214del	XP_011518931.1:n.*212_*214del
XM_017019219.2:c.*212_*214del	XP_016874708.1:n.*212_*214del
NM_000834.5:c.*212_*214del MANE Select	NP_000825.2:n.*212_*214del