Canonical Allele Identifier: CA478848558
Gene: GRIN2B HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.13717043G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13564109G>T , CM000674.2:g.13564109G>T GRCh38
NC_000012.11:g.13717043G>T , CM000674.1:g.13717043G>T GRCh37
NC_000012.10:g.13608310G>T NCBI36
NG_031854.1:g.420980C>A
NG_031854.2:g.422904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000609686.4:c.3129C>A MANE Select ENSP00000477455.1:p.Ser1043=
ENST00000637214.1:c.69+44494C>A ENSP00000489997.1:n.69+44494C>A
ENST00000609686.3:c.3129C>A ENSP00000477455.1:p.Ser1043=
ENST00000628166.1:n.1389C>A
NM_000834.3:c.3129C>A NP_000825.2:p.Ser1043=
XM_005253351.2:c.915C>A XP_005253408.1:p.Ser305=
XM_011520628.1:c.3129C>A XP_011518930.1:p.Ser1043=
XM_011520629.1:c.3129C>A XP_011518931.1:p.Ser1043=
XM_011520630.1:c.3129C>A XP_011518932.1:p.Ser1043=
NM_000834.4:c.3129C>A NP_000825.2:p.Ser1043=
XM_005253351.3:c.915C>A XP_005253408.1:p.Ser305=
XM_011520628.2:c.3129C>A XP_011518930.1:p.Ser1043=
XM_011520629.2:c.3129C>A XP_011518931.1:p.Ser1043=
XM_017019219.2:c.3129C>A XP_016874708.1:p.Ser1043=
NM_000834.5:c.3129C>A MANE Select NP_000825.2:p.Ser1043=