Canonical Allele Identifier: CA233009886

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1293449
• ClinVar RCV Id: RCV001717607
• dbSNP Id: rs146116919
• gnomAD v2: 12-13761921-ATC-A
• gnomAD v3: 12-13608987-ATC-A
• gnomAD v4: 12-13608987-ATC-A
• MyVariant Identifiers: chr12:g.13761922_13761923del (hg19) ; chr12:g.13608988_13608989del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608993_13608994del , CM000674.2:g.13608993_13608994del	GRCh38
NC_000012.11:g.13761927_13761928del , CM000674.1:g.13761927_13761928del	GRCh37
NC_000012.10:g.13653194_13653195del	NCBI36
NG_031854.1:g.376100_376101del
NG_031854.2:g.378024_378025del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1781-157_1781-156del MANE Select	ENSP00000477455.1:n.1781-157_1781-156del
ENST00000628166.2:n.41-157_41-156del
ENST00000609686.3:c.1781-157_1781-156del	ENSP00000477455.1:n.1781-157_1781-156del
ENST00000628166.1:n.41-157_41-156del
NM_000834.3:c.1781-157_1781-156del	NP_000825.2:n.1781-157_1781-156del
XM_011520628.1:c.1781-157_1781-156del	XP_011518930.1:n.1781-157_1781-156del
XM_011520629.1:c.1781-157_1781-156del	XP_011518931.1:n.1781-157_1781-156del
XM_011520630.1:c.1781-157_1781-156del	XP_011518932.1:n.1781-157_1781-156del
XR_931372.1:n.179-6105_179-6104del
XR_931373.1:n.318+236_318+237del
NM_000834.4:c.1781-157_1781-156del	NP_000825.2:n.1781-157_1781-156del
XM_011520628.2:c.1781-157_1781-156del	XP_011518930.1:n.1781-157_1781-156del
XM_011520629.2:c.1781-157_1781-156del	XP_011518931.1:n.1781-157_1781-156del
XM_017019219.2:c.1781-157_1781-156del	XP_016874708.1:n.1781-157_1781-156del
XR_001749013.1:n.457+236_457+237del
XR_931372.2:n.316-6105_316-6104del
XR_931373.2:n.457+236_457+237del
NM_000834.5:c.1781-157_1781-156del MANE Select	NP_000825.2:n.1781-157_1781-156del