Canonical Allele Identifier: CA384051354

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13761765C>A (hg19) ; chr12:g.13608831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608831C>A , CM000674.2:g.13608831C>A	GRCh38
NC_000012.11:g.13761765C>A , CM000674.1:g.13761765C>A	GRCh37
NC_000012.10:g.13653032C>A	NCBI36
NG_031854.1:g.376258G>T
NG_031854.2:g.378182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1782G>T MANE Select	ENSP00000477455.1:p.Glu594Asp
ENST00000628166.2:n.42G>T
ENST00000609686.3:c.1782G>T	ENSP00000477455.1:p.Glu594Asp
ENST00000628166.1:n.42G>T
NM_000834.3:c.1782G>T	NP_000825.2:p.Glu594Asp
XM_011520628.1:c.1782G>T	XP_011518930.1:p.Glu594Asp
XM_011520629.1:c.1782G>T	XP_011518931.1:p.Glu594Asp
XM_011520630.1:c.1782G>T	XP_011518932.1:p.Glu594Asp
XR_931372.1:n.179-6267C>A
XR_931373.1:n.318+74C>A
NM_000834.4:c.1782G>T	NP_000825.2:p.Glu594Asp
XM_011520628.2:c.1782G>T	XP_011518930.1:p.Glu594Asp
XM_011520629.2:c.1782G>T	XP_011518931.1:p.Glu594Asp
XM_017019219.2:c.1782G>T	XP_016874708.1:p.Glu594Asp
XR_001749013.1:n.457+74C>A
XR_931372.2:n.316-6267C>A
XR_931373.2:n.457+74C>A
NM_000834.5:c.1782G>T MANE Select	NP_000825.2:p.Glu594Asp