Canonical Allele Identifier: CA383992491

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13717164A>T (hg19) ; chr12:g.13564230A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564230A>T , CM000674.2:g.13564230A>T	GRCh38
NC_000012.11:g.13717164A>T , CM000674.1:g.13717164A>T	GRCh37
NC_000012.10:g.13608431A>T	NCBI36
NG_031854.1:g.420859T>A
NG_031854.2:g.422783T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.3008T>A MANE Select	ENSP00000477455.1:p.Leu1003His
ENST00000637214.1:c.69+44373T>A	ENSP00000489997.1:n.69+44373T>A
ENST00000609686.3:c.3008T>A	ENSP00000477455.1:p.Leu1003His
ENST00000628166.1:n.1268T>A
NM_000834.3:c.3008T>A	NP_000825.2:p.Leu1003His
XM_005253351.2:c.794T>A	XP_005253408.1:p.Leu265His
XM_011520628.1:c.3008T>A	XP_011518930.1:p.Leu1003His
XM_011520629.1:c.3008T>A	XP_011518931.1:p.Leu1003His
XM_011520630.1:c.3008T>A	XP_011518932.1:p.Leu1003His
NM_000834.4:c.3008T>A	NP_000825.2:p.Leu1003His
XM_005253351.3:c.794T>A	XP_005253408.1:p.Leu265His
XM_011520628.2:c.3008T>A	XP_011518930.1:p.Leu1003His
XM_011520629.2:c.3008T>A	XP_011518931.1:p.Leu1003His
XM_017019219.2:c.3008T>A	XP_016874708.1:p.Leu1003His
NM_000834.5:c.3008T>A MANE Select	NP_000825.2:p.Leu1003His