Canonical Allele Identifier: CA6461151

Gene: GRIN2B

Linked Data

• dbSNP Id: rs758606065
• ExAC: 12:13761528 G / A
• gnomAD v2: 12-13761528-G-A
• MyVariant Identifiers: chr12:g.13761528G>A (hg19) ; chr12:g.13608594G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608594G>A , CM000674.2:g.13608594G>A	GRCh38
NC_000012.11:g.13761528G>A , CM000674.1:g.13761528G>A	GRCh37
NC_000012.10:g.13652795G>A	NCBI36
NG_031854.1:g.376495C>T
NG_031854.2:g.378419C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2010+9C>T MANE Select	ENSP00000477455.1:n.2010+9C>T
ENST00000628166.2:n.270+9C>T
ENST00000637214.1:c.69+9C>T	ENSP00000489997.1:n.69+9C>T
ENST00000609686.3:c.2010+9C>T	ENSP00000477455.1:n.2010+9C>T
ENST00000628166.1:n.270+9C>T
NM_000834.3:c.2010+9C>T	NP_000825.2:n.2010+9C>T
XM_005253351.2:c.-44+9C>T	XP_005253408.1:n.-44+9C>T
XM_011520628.1:c.2010+9C>T	XP_011518930.1:n.2010+9C>T
XM_011520629.1:c.2010+9C>T	XP_011518931.1:n.2010+9C>T
XM_011520630.1:c.2010+9C>T	XP_011518932.1:n.2010+9C>T
XR_931372.1:n.179-6504G>A
XR_931373.1:n.179-24G>A
NM_000834.4:c.2010+9C>T	NP_000825.2:n.2010+9C>T
XM_005253351.3:c.-44+9C>T	XP_005253408.1:n.-44+9C>T
XM_011520628.2:c.2010+9C>T	XP_011518930.1:n.2010+9C>T
XM_011520629.2:c.2010+9C>T	XP_011518931.1:n.2010+9C>T
XM_017019219.2:c.2010+9C>T	XP_016874708.1:n.2010+9C>T
XR_001749013.1:n.318-24G>A
XR_931372.2:n.316-6504G>A
XR_931373.2:n.318-24G>A
NM_000834.5:c.2010+9C>T MANE Select	NP_000825.2:n.2010+9C>T