Canonical Allele Identifier: CA685660617

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1294286923
• gnomAD v4: 12-13561283-CTG-C
• MyVariant Identifiers: chr12:g.13714218_13714219del (hg19) ; chr12:g.13561284_13561285del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13561284_13561285del , CM000674.2:g.13561284_13561285del	GRCh38
NC_000012.11:g.13714218_13714219del , CM000674.1:g.13714218_13714219del	GRCh37
NC_000012.10:g.13605485_13605486del	NCBI36
NG_031854.1:g.423804_423805del
NG_031854.2:g.425728_425729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.*1498_*1499del MANE Select	ENSP00000477455.1:n.*1498_*1499del
ENST00000637214.1:c.69+47318_69+47319del	ENSP00000489997.1:n.69+47318_69+47319del
ENST00000609686.3:c.*1498_*1499del	ENSP00000477455.1:n.*1498_*1499del
XM_005253351.2:c.*1498_*1499del	XP_005253408.1:n.*1498_*1499del
XM_011520628.1:c.*1498_*1499del	XP_011518930.1:n.*1498_*1499del
XM_011520629.1:c.*1498_*1499del	XP_011518931.1:n.*1498_*1499del
XM_011520630.1:c.*1498_*1499del	XP_011518932.1:n.*1498_*1499del
NM_000834.4:c.*1498_*1499del	NP_000825.2:n.*1498_*1499del
XM_005253351.3:c.*1498_*1499del	XP_005253408.1:n.*1498_*1499del
XM_011520628.2:c.*1498_*1499del	XP_011518930.1:n.*1498_*1499del
XM_011520629.2:c.*1498_*1499del	XP_011518931.1:n.*1498_*1499del
XM_017019219.2:c.*1498_*1499del	XP_016874708.1:n.*1498_*1499del
NM_000834.5:c.*1498_*1499del MANE Select	NP_000825.2:n.*1498_*1499del