Canonical Allele Identifier: CA291135

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 137520
• ClinVar RCV Id: RCV000125328 ; RCV000655341 ; RCV002312884 ; RCV003390814
• dbSNP Id: rs147762014
• ExAC: 12:13717055 G / A
• gnomAD v2: 12-13717055-G-A
• gnomAD v3: 12-13564121-G-A
• gnomAD v4: 12-13564121-G-A
• MyVariant Identifiers: chr12:g.13717055G>A (hg19) ; chr12:g.13564121G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564121G>A , CM000674.2:g.13564121G>A	GRCh38
NC_000012.11:g.13717055G>A , CM000674.1:g.13717055G>A	GRCh37
NC_000012.10:g.13608322G>A	NCBI36
NG_031854.1:g.420968C>T
NG_031854.2:g.422892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3117C>T MANE Select	ENSP00000477455.1:p.Tyr1039=
ENST00000637214.1:c.69+44482C>T	ENSP00000489997.1:n.69+44482C>T
ENST00000609686.3:c.3117C>T	ENSP00000477455.1:p.Tyr1039=
ENST00000628166.1:n.1377C>T
NM_000834.3:c.3117C>T	NP_000825.2:p.Tyr1039=
XM_005253351.2:c.903C>T	XP_005253408.1:p.Tyr301=
XM_011520628.1:c.3117C>T	XP_011518930.1:p.Tyr1039=
XM_011520629.1:c.3117C>T	XP_011518931.1:p.Tyr1039=
XM_011520630.1:c.3117C>T	XP_011518932.1:p.Tyr1039=
NM_000834.4:c.3117C>T	NP_000825.2:p.Tyr1039=
XM_005253351.3:c.903C>T	XP_005253408.1:p.Tyr301=
XM_011520628.2:c.3117C>T	XP_011518930.1:p.Tyr1039=
XM_011520629.2:c.3117C>T	XP_011518931.1:p.Tyr1039=
XM_017019219.2:c.3117C>T	XP_016874708.1:p.Tyr1039=
NM_000834.5:c.3117C>T MANE Select	NP_000825.2:p.Tyr1039=