Canonical Allele Identifier: CA383998192

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13722874G>A (hg19) ; chr12:g.13569940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13569940G>A , CM000674.2:g.13569940G>A	GRCh38
NC_000012.11:g.13722874G>A , CM000674.1:g.13722874G>A	GRCh37
NC_000012.10:g.13614141G>A	NCBI36
NG_031854.1:g.415149C>T
NG_031854.2:g.417073C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2249C>T MANE Select	ENSP00000477455.1:p.Thr750Ile
ENST00000628166.2:n.509C>T
ENST00000637214.1:c.69+38663C>T	ENSP00000489997.1:n.69+38663C>T
ENST00000609686.3:c.2249C>T	ENSP00000477455.1:p.Thr750Ile
ENST00000628166.1:n.509C>T
NM_000834.3:c.2249C>T	NP_000825.2:p.Thr750Ile
XM_005253351.2:c.35C>T	XP_005253408.1:p.Thr12Ile
XM_011520628.1:c.2249C>T	XP_011518930.1:p.Thr750Ile
XM_011520629.1:c.2249C>T	XP_011518931.1:p.Thr750Ile
XM_011520630.1:c.2249C>T	XP_011518932.1:p.Thr750Ile
NM_000834.4:c.2249C>T	NP_000825.2:p.Thr750Ile
XM_005253351.3:c.35C>T	XP_005253408.1:p.Thr12Ile
XM_011520628.2:c.2249C>T	XP_011518930.1:p.Thr750Ile
XM_011520629.2:c.2249C>T	XP_011518931.1:p.Thr750Ile
XM_017019219.2:c.2249C>T	XP_016874708.1:p.Thr750Ile
NM_000834.5:c.2249C>T MANE Select	NP_000825.2:p.Thr750Ile