Canonical Allele Identifier: CA478772796
Community Standard Title: NM_000834.5(GRIN2B):c.1596A>C (p.Thr532=)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13615172T>G , CM000674.2:g.13615172T>G GRCh38
NC_000012.11:g.13768106T>G , CM000674.1:g.13768106T>G GRCh37
NC_000012.10:g.13659373T>G NCBI36
NG_031854.1:g.369917A>C
NG_031854.2:g.371841A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.1596A>C MANE Select NP_000825.2:p.Thr532=
ENST00000609686.4:c.1596A>C MANE Select ENSP00000477455.1:p.Thr532=
NM_000834.3:c.1596A>C NP_000825.2:p.Thr532=
NM_000834.4:c.1596A>C NP_000825.2:p.Thr532=
ENST00000609686.3:c.1596A>C ENSP00000477455.1:p.Thr532=
XM_011520628.1:c.1596A>C XP_011518930.1:p.Thr532=
XM_011520628.2:c.1596A>C XP_011518930.1:p.Thr532=
XM_011520629.1:c.1596A>C XP_011518931.1:p.Thr532=
XM_011520629.2:c.1596A>C XP_011518931.1:p.Thr532=
XM_011520630.1:c.1596A>C XP_011518932.1:p.Thr532=
XM_017019219.2:c.1596A>C XP_016874708.1:p.Thr532=
XR_001749013.1:n.674T>G
XR_931372.1:n.253T>G
XR_931372.2:n.390T>G
XR_931373.1:n.393T>G
XR_931373.2:n.532T>G
XR_931374.1:n.192T>G