Canonical Allele Identifier: CA6461275
Community Standard Title: NM_000834.5(GRIN2B):c.1288A>C (p.Met430Leu)
Gene: GRIN2B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.13616495T>G , CM000674.2:g.13616495T>G GRCh38
NC_000012.11:g.13769429T>G , CM000674.1:g.13769429T>G GRCh37
NC_000012.10:g.13660696T>G NCBI36
NG_031854.1:g.368594A>C
NG_031854.2:g.370518A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000834.5:c.1288A>C MANE Select NP_000825.2:p.Met430Leu
ENST00000609686.4:c.1288A>C MANE Select ENSP00000477455.1:p.Met430Leu
NM_000834.3:c.1288A>C NP_000825.2:p.Met430Leu
NM_000834.4:c.1288A>C NP_000825.2:p.Met430Leu
ENST00000609686.3:c.1288A>C ENSP00000477455.1:p.Met430Leu
ENST00000630791.2:c.1288A>C ENSP00000486677.2:p.Met430Leu
XM_011520628.1:c.1288A>C XP_011518930.1:p.Met430Leu
XM_011520628.2:c.1288A>C XP_011518930.1:p.Met430Leu
XM_011520629.1:c.1288A>C XP_011518931.1:p.Met430Leu
XM_011520629.2:c.1288A>C XP_011518931.1:p.Met430Leu
XM_011520630.1:c.1288A>C XP_011518932.1:p.Met430Leu
XM_017019219.2:c.1288A>C XP_016874708.1:p.Met430Leu
XR_001749013.1:n.728+1269T>G
XR_931372.1:n.307+1269T>G
XR_931372.2:n.444+1269T>G
XR_931373.1:n.447+1269T>G
XR_931373.2:n.586+1269T>G
XR_931374.1:n.246+1269T>G