Canonical Allele Identifier: CA603378185

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1252205362
• gnomAD v2: 12-13715143-TTA-T
• gnomAD v3: 12-13562209-TTA-T
• gnomAD v4: 12-13562209-TTA-T
• MyVariant Identifiers: chr12:g.13715144_13715145del (hg19) ; chr12:g.13562210_13562211del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562216_13562217del , CM000674.2:g.13562216_13562217del	GRCh38
NC_000012.11:g.13715150_13715151del , CM000674.1:g.13715150_13715151del	GRCh37
NC_000012.10:g.13606417_13606418del	NCBI36
NG_031854.1:g.422878_422879del
NG_031854.2:g.424802_424803del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*572_*573del MANE Select	ENSP00000477455.1:n.*572_*573del
ENST00000636207.1:n.54+27_54+28del
ENST00000637214.1:c.69+46392_69+46393del	ENSP00000489997.1:n.69+46392_69+46393del
ENST00000609686.3:c.*572_*573del	ENSP00000477455.1:n.*572_*573del
NM_000834.3:c.*572_*573del	NP_000825.2:n.*572_*573del
XM_005253351.2:c.*572_*573del	XP_005253408.1:n.*572_*573del
XM_011520628.1:c.*572_*573del	XP_011518930.1:n.*572_*573del
XM_011520629.1:c.*572_*573del	XP_011518931.1:n.*572_*573del
XM_011520630.1:c.*572_*573del	XP_011518932.1:n.*572_*573del
NM_000834.4:c.*572_*573del	NP_000825.2:n.*572_*573del
XM_005253351.3:c.*572_*573del	XP_005253408.1:n.*572_*573del
XM_011520628.2:c.*572_*573del	XP_011518930.1:n.*572_*573del
XM_011520629.2:c.*572_*573del	XP_011518931.1:n.*572_*573del
XM_017019219.2:c.*572_*573del	XP_016874708.1:n.*572_*573del
NM_000834.5:c.*572_*573del MANE Select	NP_000825.2:n.*572_*573del