Canonical Allele Identifier: CA13614366

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1805476
• gnomAD v2: 12-13714363-G-T
• gnomAD v3: 12-13561429-G-T
• gnomAD v4: 12-13561429-G-T
• MyVariant Identifiers: chr12:g.13714363G>T (hg19) ; chr12:g.13561429G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13561429G>T , CM000674.2:g.13561429G>T	GRCh38
NC_000012.11:g.13714363G>T , CM000674.1:g.13714363G>T	GRCh37
NC_000012.10:g.13605630G>T	NCBI36
NG_031854.1:g.423660C>A
NG_031854.2:g.425584C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.*1354C>A MANE Select	ENSP00000477455.1:n.*1354C>A
ENST00000637214.1:c.69+47174C>A	ENSP00000489997.1:n.69+47174C>A
ENST00000609686.3:c.*1354C>A	ENSP00000477455.1:n.*1354C>A
XM_005253351.2:c.*1354C>A	XP_005253408.1:n.*1354C>A
XM_011520628.1:c.*1354C>A	XP_011518930.1:n.*1354C>A
XM_011520629.1:c.*1354C>A	XP_011518931.1:n.*1354C>A
XM_011520630.1:c.*1354C>A	XP_011518932.1:n.*1354C>A
NM_000834.4:c.*1354C>A	NP_000825.2:n.*1354C>A
XM_005253351.3:c.*1354C>A	XP_005253408.1:n.*1354C>A
XM_011520628.2:c.*1354C>A	XP_011518930.1:n.*1354C>A
XM_011520629.2:c.*1354C>A	XP_011518931.1:n.*1354C>A
XM_017019219.2:c.*1354C>A	XP_016874708.1:n.*1354C>A
NM_000834.5:c.*1354C>A MANE Select	NP_000825.2:n.*1354C>A