Canonical Allele Identifier: CA233009838

Gene: GRIN2B

Linked Data

• dbSNP Id: rs201369489
• gnomAD v4: 12-13608779-G-A
• MyVariant Identifiers: chr12:g.13761713G>A (hg19) ; chr12:g.13608779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608779G>A , CM000674.2:g.13608779G>A	GRCh38
NC_000012.11:g.13761713G>A , CM000674.1:g.13761713G>A	GRCh37
NC_000012.10:g.13652980G>A	NCBI36
NG_031854.1:g.376310C>T
NG_031854.2:g.378234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1834C>T MANE Select	ENSP00000477455.1:p.Leu612=
ENST00000628166.2:n.94C>T
ENST00000609686.3:c.1834C>T	ENSP00000477455.1:p.Leu612=
ENST00000628166.1:n.94C>T
NM_000834.3:c.1834C>T	NP_000825.2:p.Leu612=
XM_011520628.1:c.1834C>T	XP_011518930.1:p.Leu612=
XM_011520629.1:c.1834C>T	XP_011518931.1:p.Leu612=
XM_011520630.1:c.1834C>T	XP_011518932.1:p.Leu612=
XR_931372.1:n.179-6319G>A
XR_931373.1:n.318+22G>A
NM_000834.4:c.1834C>T	NP_000825.2:p.Leu612=
XM_011520628.2:c.1834C>T	XP_011518930.1:p.Leu612=
XM_011520629.2:c.1834C>T	XP_011518931.1:p.Leu612=
XM_017019219.2:c.1834C>T	XP_016874708.1:p.Leu612=
XR_001749013.1:n.457+22G>A
XR_931372.2:n.316-6319G>A
XR_931373.2:n.457+22G>A
NM_000834.5:c.1834C>T MANE Select	NP_000825.2:p.Leu612=