Canonical Allele Identifier: CA478771338

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2941991
• ClinVar RCV Id: RCV003803013
• MyVariant Identifiers: chr12:g.13761615G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608681G>C , CM000674.2:g.13608681G>C	GRCh38
NC_000012.11:g.13761615G>C , CM000674.1:g.13761615G>C	GRCh37
NC_000012.10:g.13652882G>C	NCBI36
NG_031854.1:g.376408C>G
NG_031854.2:g.378332C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.1932C>G MANE Select	ENSP00000477455.1:p.Ala644=
ENST00000628166.2:n.192C>G
ENST00000609686.3:c.1932C>G	ENSP00000477455.1:p.Ala644=
ENST00000628166.1:n.192C>G
NM_000834.3:c.1932C>G	NP_000825.2:p.Ala644=
XM_011520628.1:c.1932C>G	XP_011518930.1:p.Ala644=
XM_011520629.1:c.1932C>G	XP_011518931.1:p.Ala644=
XM_011520630.1:c.1932C>G	XP_011518932.1:p.Ala644=
XR_931372.1:n.179-6417G>C
XR_931373.1:n.242G>C
NM_000834.4:c.1932C>G	NP_000825.2:p.Ala644=
XM_011520628.2:c.1932C>G	XP_011518930.1:p.Ala644=
XM_011520629.2:c.1932C>G	XP_011518931.1:p.Ala644=
XM_017019219.2:c.1932C>G	XP_016874708.1:p.Ala644=
XR_001749013.1:n.381G>C
XR_931372.2:n.316-6417G>C
XR_931373.2:n.381G>C
NM_000834.5:c.1932C>G MANE Select	NP_000825.2:p.Ala644=