Canonical Allele Identifier: CA383998216

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13722884T>G (hg19) ; chr12:g.13569950T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13569950T>G , CM000674.2:g.13569950T>G	GRCh38
NC_000012.11:g.13722884T>G , CM000674.1:g.13722884T>G	GRCh37
NC_000012.10:g.13614151T>G	NCBI36
NG_031854.1:g.415139A>C
NG_031854.2:g.417063A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2239A>C MANE Select	ENSP00000477455.1:p.Lys747Gln
ENST00000628166.2:n.499A>C
ENST00000637214.1:c.69+38653A>C	ENSP00000489997.1:n.69+38653A>C
ENST00000609686.3:c.2239A>C	ENSP00000477455.1:p.Lys747Gln
ENST00000628166.1:n.499A>C
NM_000834.3:c.2239A>C	NP_000825.2:p.Lys747Gln
XM_005253351.2:c.25A>C	XP_005253408.1:p.Lys9Gln
XM_011520628.1:c.2239A>C	XP_011518930.1:p.Lys747Gln
XM_011520629.1:c.2239A>C	XP_011518931.1:p.Lys747Gln
XM_011520630.1:c.2239A>C	XP_011518932.1:p.Lys747Gln
NM_000834.4:c.2239A>C	NP_000825.2:p.Lys747Gln
XM_005253351.3:c.25A>C	XP_005253408.1:p.Lys9Gln
XM_011520628.2:c.2239A>C	XP_011518930.1:p.Lys747Gln
XM_011520629.2:c.2239A>C	XP_011518931.1:p.Lys747Gln
XM_017019219.2:c.2239A>C	XP_016874708.1:p.Lys747Gln
NM_000834.5:c.2239A>C MANE Select	NP_000825.2:p.Lys747Gln