Canonical Allele Identifier: CA16043627
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 374226
ClinVar RCV Id: RCV001172325 RCV001376742 RCV001723972
dbSNP Id: rs1057518988
MyVariant Identifiers: chr12:g.13724793T>C (hg19) chr12:g.13571859T>C (hg38)
PubMed: PMID:27479843
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13571859T>C , CM000674.2:g.13571859T>C GRCh38
NC_000012.11:g.13724793T>C , CM000674.1:g.13724793T>C GRCh37
NC_000012.10:g.13616060T>C NCBI36
NG_031854.1:g.413230A>G
NG_031854.2:g.415154A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.2116A>G MANE Select ENSP00000477455.1:p.Met706Val
ENST00000628166.2:n.376A>G
ENST00000637214.1:c.69+36744A>G ENSP00000489997.1:n.69+36744A>G
ENST00000609686.3:c.2116A>G ENSP00000477455.1:p.Met706Val
ENST00000628166.1:n.376A>G
NM_000834.3:c.2116A>G NP_000825.2:p.Met706Val
XM_005253351.2:c.-43-1842A>G XP_005253408.1:n.-43-1842A>G
XM_011520628.1:c.2116A>G XP_011518930.1:p.Met706Val
XM_011520629.1:c.2116A>G XP_011518931.1:p.Met706Val
XM_011520630.1:c.2116A>G XP_011518932.1:p.Met706Val
NM_000834.4:c.2116A>G NP_000825.2:p.Met706Val
XM_005253351.3:c.-43-1842A>G XP_005253408.1:n.-43-1842A>G
XM_011520628.2:c.2116A>G XP_011518930.1:p.Met706Val
XM_011520629.2:c.2116A>G XP_011518931.1:p.Met706Val
XM_017019219.2:c.2116A>G XP_016874708.1:p.Met706Val
NM_000834.5:c.2116A>G MANE Select NP_000825.2:p.Met706Val
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