Canonical Allele Identifier: CA10577444
Gene: GRIN2B HGNC NCBI

Linked Data

ClinVar Variation Id: 234546
ClinVar RCV Id: RCV000214028 RCV001172330
dbSNP Id: rs876661076
MyVariant Identifiers: chr12:g.13720105T>G (hg19) chr12:g.13567171T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13567171T>G , CM000674.2:g.13567171T>G GRCh38
NC_000012.11:g.13720105T>G , CM000674.1:g.13720105T>G GRCh37
NC_000012.10:g.13611372T>G NCBI36
NG_031854.1:g.417918A>C
NG_031854.2:g.419842A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000609686.4:c.2452A>C MANE Select ENSP00000477455.1:p.Met818Leu
ENST00000628166.2:n.712A>C
ENST00000637214.1:c.69+41432A>C ENSP00000489997.1:n.69+41432A>C
ENST00000609686.3:c.2452A>C ENSP00000477455.1:p.Met818Leu
ENST00000628166.1:n.712A>C
NM_000834.3:c.2452A>C NP_000825.2:p.Met818Leu
XM_005253351.2:c.238A>C XP_005253408.1:p.Met80Leu
XM_011520628.1:c.2452A>C XP_011518930.1:p.Met818Leu
XM_011520629.1:c.2452A>C XP_011518931.1:p.Met818Leu
XM_011520630.1:c.2452A>C XP_011518932.1:p.Met818Leu
NM_000834.4:c.2452A>C NP_000825.2:p.Met818Leu
XM_005253351.3:c.238A>C XP_005253408.1:p.Met80Leu
XM_011520628.2:c.2452A>C XP_011518930.1:p.Met818Leu
XM_011520629.2:c.2452A>C XP_011518931.1:p.Met818Leu
XM_017019219.2:c.2452A>C XP_016874708.1:p.Met818Leu
NM_000834.5:c.2452A>C MANE Select NP_000825.2:p.Met818Leu
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