Canonical Allele Identifier: CA233132220

Gene: GRIN2B

Linked Data

• dbSNP Id: rs567424077
• gnomAD v3: 12-13562595-GGA-G
• gnomAD v4: 12-13562595-GGA-G
• MyVariant Identifiers: chr12:g.13715530_13715531del (hg19) ; chr12:g.13562596_13562597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562600_13562601del , CM000674.2:g.13562600_13562601del	GRCh38
NC_000012.11:g.13715534_13715535del , CM000674.1:g.13715534_13715535del	GRCh37
NC_000012.10:g.13606801_13606802del	NCBI36
NG_031854.1:g.422492_422493del
NG_031854.2:g.424416_424417del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.*186_*187del MANE Select	ENSP00000477455.1:n.*186_*187del
ENST00000637214.1:c.69+46006_69+46007del	ENSP00000489997.1:n.69+46006_69+46007del
ENST00000609686.3:c.*186_*187del	ENSP00000477455.1:n.*186_*187del
NM_000834.3:c.*186_*187del	NP_000825.2:n.*186_*187del
XM_005253351.2:c.*186_*187del	XP_005253408.1:n.*186_*187del
XM_011520628.1:c.*186_*187del	XP_011518930.1:n.*186_*187del
XM_011520629.1:c.*186_*187del	XP_011518931.1:n.*186_*187del
XM_011520630.1:c.*186_*187del	XP_011518932.1:n.*186_*187del
NM_000834.4:c.*186_*187del	NP_000825.2:n.*186_*187del
XM_005253351.3:c.*186_*187del	XP_005253408.1:n.*186_*187del
XM_011520628.2:c.*186_*187del	XP_011518930.1:n.*186_*187del
XM_011520629.2:c.*186_*187del	XP_011518931.1:n.*186_*187del
XM_017019219.2:c.*186_*187del	XP_016874708.1:n.*186_*187del
NM_000834.5:c.*186_*187del MANE Select	NP_000825.2:n.*186_*187del