Canonical Allele Identifier: CA384054702

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2943957
• ClinVar RCV Id: RCV003803515
• gnomAD v4: 12-13753849-T-A
• MyVariant Identifiers: chr12:g.13906783T>A (hg19) ; chr12:g.13753849T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753849T>A , CM000674.2:g.13753849T>A	GRCh38
NC_000012.11:g.13906783T>A , CM000674.1:g.13906783T>A	GRCh37
NC_000012.10:g.13798050T>A	NCBI36
NG_031854.1:g.231240A>T
NG_031854.2:g.233164A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.478A>T MANE Select	ENSP00000477455.1:p.Ile160Phe
ENST00000630791.2:c.478A>T	ENSP00000486677.2:p.Ile160Phe
ENST00000609686.3:c.478A>T	ENSP00000477455.1:p.Ile160Phe
NM_000834.3:c.478A>T	NP_000825.2:p.Ile160Phe
XM_011520628.1:c.478A>T	XP_011518930.1:p.Ile160Phe
XM_011520629.1:c.478A>T	XP_011518931.1:p.Ile160Phe
XM_011520630.1:c.478A>T	XP_011518932.1:p.Ile160Phe
NM_000834.4:c.478A>T	NP_000825.2:p.Ile160Phe
XM_011520628.2:c.478A>T	XP_011518930.1:p.Ile160Phe
XM_011520629.2:c.478A>T	XP_011518931.1:p.Ile160Phe
XM_017019219.2:c.478A>T	XP_016874708.1:p.Ile160Phe
NM_000834.5:c.478A>T MANE Select	NP_000825.2:p.Ile160Phe