Canonical Allele Identifier: CA16043467
Community Standard Title: NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13608611C>T , CM000674.2:g.13608611C>T GRCh38
NC_000012.11:g.13761545C>T , CM000674.1:g.13761545C>T GRCh37
NC_000012.10:g.13652812C>T NCBI36
NG_031854.1:g.376478G>A
NG_031854.2:g.378402G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.2002G>A MANE Select NP_000825.2:p.Asp668Asn
ENST00000609686.4:c.2002G>A MANE Select ENSP00000477455.1:p.Asp668Asn
NM_000834.3:c.2002G>A NP_000825.2:p.Asp668Asn
NM_000834.4:c.2002G>A NP_000825.2:p.Asp668Asn
ENST00000609686.3:c.2002G>A ENSP00000477455.1:p.Asp668Asn
ENST00000628166.1:n.262G>A
ENST00000628166.2:n.262G>A
ENST00000637214.1:c.61G>A ENSP00000489997.1:p.Asp21Asn
XM_005253351.2:c.-52G>A XP_005253408.1:n.-52G>A
XM_005253351.3:c.-52G>A XP_005253408.1:n.-52G>A
XM_011520628.1:c.2002G>A XP_011518930.1:p.Asp668Asn
XM_011520628.2:c.2002G>A XP_011518930.1:p.Asp668Asn
XM_011520629.1:c.2002G>A XP_011518931.1:p.Asp668Asn
XM_011520629.2:c.2002G>A XP_011518931.1:p.Asp668Asn
XM_011520630.1:c.2002G>A XP_011518932.1:p.Asp668Asn
XM_017019219.2:c.2002G>A XP_016874708.1:p.Asp668Asn
XR_001749013.1:n.318-7C>T
XR_931372.1:n.179-6487C>T
XR_931372.2:n.316-6487C>T
XR_931373.1:n.179-7C>T
XR_931373.2:n.318-7C>T