Canonical Allele Identifier: CA383996412
Community Standard Title: NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.2452A>G MANE Select NP_000825.2:p.Met818Val
ENST00000609686.4:c.2452A>G MANE Select ENSP00000477455.1:p.Met818Val
NM_000834.3:c.2452A>G NP_000825.2:p.Met818Val
NM_000834.4:c.2452A>G NP_000825.2:p.Met818Val
ENST00000609686.3:c.2452A>G ENSP00000477455.1:p.Met818Val
ENST00000628166.1:n.712A>G
ENST00000628166.2:n.712A>G
ENST00000637214.1:c.69+41432A>G ENSP00000489997.1:n.69+41432A>G
XM_005253351.2:c.238A>G XP_005253408.1:p.Met80Val
XM_005253351.3:c.238A>G XP_005253408.1:p.Met80Val
XM_011520628.1:c.2452A>G XP_011518930.1:p.Met818Val
XM_011520628.2:c.2452A>G XP_011518930.1:p.Met818Val
XM_011520629.1:c.2452A>G XP_011518931.1:p.Met818Val
XM_011520629.2:c.2452A>G XP_011518931.1:p.Met818Val
XM_011520630.1:c.2452A>G XP_011518932.1:p.Met818Val
XM_017019219.2:c.2452A>G XP_016874708.1:p.Met818Val