Canonical Allele Identifier: CA383998268
Community Standard Title: NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13569973A>C , CM000674.2:g.13569973A>C GRCh38
NC_000012.11:g.13722907A>C , CM000674.1:g.13722907A>C GRCh37
NC_000012.10:g.13614174A>C NCBI36
NG_031854.1:g.415116T>G
NG_031854.2:g.417040T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.2216T>G MANE Select NP_000825.2:p.Met739Arg
ENST00000609686.4:c.2216T>G MANE Select ENSP00000477455.1:p.Met739Arg
NM_000834.3:c.2216T>G NP_000825.2:p.Met739Arg
NM_000834.4:c.2216T>G NP_000825.2:p.Met739Arg
ENST00000609686.3:c.2216T>G ENSP00000477455.1:p.Met739Arg
ENST00000628166.1:n.476T>G
ENST00000628166.2:n.476T>G
ENST00000637214.1:c.69+38630T>G ENSP00000489997.1:n.69+38630T>G
XM_005253351.2:c.2T>G XP_005253408.1:p.Met1Arg
XM_005253351.3:c.2T>G XP_005253408.1:p.Met1Arg
XM_011520628.1:c.2216T>G XP_011518930.1:p.Met739Arg
XM_011520628.2:c.2216T>G XP_011518930.1:p.Met739Arg
XM_011520629.1:c.2216T>G XP_011518931.1:p.Met739Arg
XM_011520629.2:c.2216T>G XP_011518931.1:p.Met739Arg
XM_011520630.1:c.2216T>G XP_011518932.1:p.Met739Arg
XM_017019219.2:c.2216T>G XP_016874708.1:p.Met739Arg