Canonical Allele Identifier: CA384051502

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13764716A>T (hg19) ; chr12:g.13611782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611782A>T , CM000674.2:g.13611782A>T	GRCh38
NC_000012.11:g.13764716A>T , CM000674.1:g.13764716A>T	GRCh37
NC_000012.10:g.13655983A>T	NCBI36
NG_031854.1:g.373307T>A
NG_031854.2:g.375231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1723T>A MANE Select	ENSP00000477455.1:p.Phe575Ile
ENST00000609686.3:c.1723T>A	ENSP00000477455.1:p.Phe575Ile
NM_000834.3:c.1723T>A	NP_000825.2:p.Phe575Ile
XM_011520628.1:c.1723T>A	XP_011518930.1:p.Phe575Ile
XM_011520629.1:c.1723T>A	XP_011518931.1:p.Phe575Ile
XM_011520630.1:c.1723T>A	XP_011518932.1:p.Phe575Ile
XR_931372.1:n.179-3316A>T
XR_931373.1:n.318+3025A>T
XR_931374.1:n.117+1182A>T
NM_000834.4:c.1723T>A	NP_000825.2:p.Phe575Ile
XM_011520628.2:c.1723T>A	XP_011518930.1:p.Phe575Ile
XM_011520629.2:c.1723T>A	XP_011518931.1:p.Phe575Ile
XM_017019219.2:c.1723T>A	XP_016874708.1:p.Phe575Ile
XR_001749013.1:n.599+1182A>T
XR_931372.2:n.316-3316A>T
XR_931373.2:n.457+3025A>T
NM_000834.5:c.1723T>A MANE Select	NP_000825.2:p.Phe575Ile