Canonical Allele Identifier: CA383992523

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13564245-C-A
• MyVariant Identifiers: chr12:g.13717179C>A (hg19) ; chr12:g.13564245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564245C>A , CM000674.2:g.13564245C>A	GRCh38
NC_000012.11:g.13717179C>A , CM000674.1:g.13717179C>A	GRCh37
NC_000012.10:g.13608446C>A	NCBI36
NG_031854.1:g.420844G>T
NG_031854.2:g.422768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2993G>T MANE Select	ENSP00000477455.1:p.Ser998Ile
ENST00000637214.1:c.69+44358G>T	ENSP00000489997.1:n.69+44358G>T
ENST00000609686.3:c.2993G>T	ENSP00000477455.1:p.Ser998Ile
ENST00000628166.1:n.1253G>T
NM_000834.3:c.2993G>T	NP_000825.2:p.Ser998Ile
XM_005253351.2:c.779G>T	XP_005253408.1:p.Ser260Ile
XM_011520628.1:c.2993G>T	XP_011518930.1:p.Ser998Ile
XM_011520629.1:c.2993G>T	XP_011518931.1:p.Ser998Ile
XM_011520630.1:c.2993G>T	XP_011518932.1:p.Ser998Ile
NM_000834.4:c.2993G>T	NP_000825.2:p.Ser998Ile
XM_005253351.3:c.779G>T	XP_005253408.1:p.Ser260Ile
XM_011520628.2:c.2993G>T	XP_011518930.1:p.Ser998Ile
XM_011520629.2:c.2993G>T	XP_011518931.1:p.Ser998Ile
XM_017019219.2:c.2993G>T	XP_016874708.1:p.Ser998Ile
NM_000834.5:c.2993G>T MANE Select	NP_000825.2:p.Ser998Ile