Canonical Allele Identifier: CA384054008

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1363660328
• gnomAD v4: 12-13753680-A-G
• MyVariant Identifiers: chr12:g.13906614A>G (hg19) ; chr12:g.13753680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13753680A>G , CM000674.2:g.13753680A>G	GRCh38
NC_000012.11:g.13906614A>G , CM000674.1:g.13906614A>G	GRCh37
NC_000012.10:g.13797881A>G	NCBI36
NG_031854.1:g.231409T>C
NG_031854.2:g.233333T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.647T>C MANE Select	ENSP00000477455.1:p.Ile216Thr
ENST00000630791.2:c.647T>C	ENSP00000486677.2:p.Ile216Thr
ENST00000609686.3:c.647T>C	ENSP00000477455.1:p.Ile216Thr
NM_000834.3:c.647T>C	NP_000825.2:p.Ile216Thr
XM_011520628.1:c.647T>C	XP_011518930.1:p.Ile216Thr
XM_011520629.1:c.647T>C	XP_011518931.1:p.Ile216Thr
XM_011520630.1:c.647T>C	XP_011518932.1:p.Ile216Thr
NM_000834.4:c.647T>C	NP_000825.2:p.Ile216Thr
XM_011520628.2:c.647T>C	XP_011518930.1:p.Ile216Thr
XM_011520629.2:c.647T>C	XP_011518931.1:p.Ile216Thr
XM_017019219.2:c.647T>C	XP_016874708.1:p.Ile216Thr
NM_000834.5:c.647T>C MANE Select	NP_000825.2:p.Ile216Thr