Canonical Allele Identifier: CA383996049

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1996772
• ClinVar RCV Id: RCV002823825
• dbSNP Id: rs1324714926
• gnomAD v2: 12-13720005-A-G
• gnomAD v3: 12-13567071-A-G
• gnomAD v4: 12-13567071-A-G
• MyVariant Identifiers: chr12:g.13720005A>G (hg19) ; chr12:g.13567071A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13567071A>G , CM000674.2:g.13567071A>G	GRCh38
NC_000012.11:g.13720005A>G , CM000674.1:g.13720005A>G	GRCh37
NC_000012.10:g.13611272A>G	NCBI36
NG_031854.1:g.418018T>C
NG_031854.2:g.419942T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2552T>C MANE Select	ENSP00000477455.1:p.Met851Thr
ENST00000637214.1:c.69+41532T>C	ENSP00000489997.1:n.69+41532T>C
ENST00000609686.3:c.2552T>C	ENSP00000477455.1:p.Met851Thr
ENST00000628166.1:n.812T>C
NM_000834.3:c.2552T>C	NP_000825.2:p.Met851Thr
XM_005253351.2:c.338T>C	XP_005253408.1:p.Met113Thr
XM_011520628.1:c.2552T>C	XP_011518930.1:p.Met851Thr
XM_011520629.1:c.2552T>C	XP_011518931.1:p.Met851Thr
XM_011520630.1:c.2552T>C	XP_011518932.1:p.Met851Thr
NM_000834.4:c.2552T>C	NP_000825.2:p.Met851Thr
XM_005253351.3:c.338T>C	XP_005253408.1:p.Met113Thr
XM_011520628.2:c.2552T>C	XP_011518930.1:p.Met851Thr
XM_011520629.2:c.2552T>C	XP_011518931.1:p.Met851Thr
XM_017019219.2:c.2552T>C	XP_016874708.1:p.Met851Thr
NM_000834.5:c.2552T>C MANE Select	NP_000825.2:p.Met851Thr