Canonical Allele Identifier: CA383986032

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 3024234
• ClinVar RCV Id: RCV003883280
• MyVariant Identifiers: chr12:g.13715964G>C (hg19) ; chr12:g.13563030G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13563030G>C , CM000674.2:g.13563030G>C	GRCh38
NC_000012.11:g.13715964G>C , CM000674.1:g.13715964G>C	GRCh37
NC_000012.10:g.13607231G>C	NCBI36
NG_031854.1:g.422059C>G
NG_031854.2:g.423983C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.4208C>G MANE Select	ENSP00000477455.1:p.Ser1403Cys
ENST00000637214.1:c.69+45573C>G	ENSP00000489997.1:n.69+45573C>G
ENST00000609686.3:c.4208C>G	ENSP00000477455.1:p.Ser1403Cys
ENST00000628166.1:n.2468C>G
NM_000834.3:c.4208C>G	NP_000825.2:p.Ser1403Cys
XM_005253351.2:c.1994C>G	XP_005253408.1:p.Ser665Cys
XM_011520628.1:c.4208C>G	XP_011518930.1:p.Ser1403Cys
XM_011520629.1:c.4208C>G	XP_011518931.1:p.Ser1403Cys
XM_011520630.1:c.4208C>G	XP_011518932.1:p.Ser1403Cys
NM_000834.4:c.4208C>G	NP_000825.2:p.Ser1403Cys
XM_005253351.3:c.1994C>G	XP_005253408.1:p.Ser665Cys
XM_011520628.2:c.4208C>G	XP_011518930.1:p.Ser1403Cys
XM_011520629.2:c.4208C>G	XP_011518931.1:p.Ser1403Cys
XM_017019219.2:c.4208C>G	XP_016874708.1:p.Ser1403Cys
NM_000834.5:c.4208C>G MANE Select	NP_000825.2:p.Ser1403Cys