Canonical Allele Identifier: CA603454728

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1423999766
• gnomAD v2: 12-13872018-ATC-A
• gnomAD v3: 12-13719084-ATC-A
• gnomAD v4: 12-13719084-ATC-A
• MyVariant Identifiers: chr12:g.13872019_13872020del (hg19) ; chr12:g.13719085_13719086del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13719087_13719088del , CM000674.2:g.13719087_13719088del	GRCh38
NC_000012.11:g.13872021_13872022del , CM000674.1:g.13872021_13872022del	GRCh37
NC_000012.10:g.13763288_13763289del	NCBI36
NG_031854.1:g.266003_266004del
NG_031854.2:g.267927_267928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1010+34231_1010+34232del MANE Select	ENSP00000477455.1:n.1010+34231_1010+34232del
ENST00000630791.2:c.1010+34231_1010+34232del	ENSP00000486677.2:n.1010+34231_1010+34232del
ENST00000609686.3:c.1010+34231_1010+34232del	ENSP00000477455.1:n.1010+34231_1010+34232del
NM_000834.3:c.1010+34231_1010+34232del	NP_000825.2:n.1010+34231_1010+34232del
XM_011520628.1:c.1010+34231_1010+34232del	XP_011518930.1:n.1010+34231_1010+34232del
XM_011520629.1:c.1010+34231_1010+34232del	XP_011518931.1:n.1010+34231_1010+34232del
XM_011520630.1:c.1010+34231_1010+34232del	XP_011518932.1:n.1010+34231_1010+34232del
NM_000834.4:c.1010+34231_1010+34232del	NP_000825.2:n.1010+34231_1010+34232del
XM_011520628.2:c.1010+34231_1010+34232del	XP_011518930.1:n.1010+34231_1010+34232del
XM_011520629.2:c.1010+34231_1010+34232del	XP_011518931.1:n.1010+34231_1010+34232del
XM_017019219.2:c.1010+34231_1010+34232del	XP_016874708.1:n.1010+34231_1010+34232del
NM_000834.5:c.1010+34231_1010+34232del MANE Select	NP_000825.2:n.1010+34231_1010+34232del