Canonical Allele Identifier: CA233134234

Gene: GRIN2B

Linked Data

• dbSNP Id: rs969024709
• gnomAD v4: 12-13564240-T-C
• MyVariant Identifiers: chr12:g.13717174T>C (hg19) ; chr12:g.13564240T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564240T>C , CM000674.2:g.13564240T>C	GRCh38
NC_000012.11:g.13717174T>C , CM000674.1:g.13717174T>C	GRCh37
NC_000012.10:g.13608441T>C	NCBI36
NG_031854.1:g.420849A>G
NG_031854.2:g.422773A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2998A>G MANE Select	ENSP00000477455.1:p.Ile1000Val
ENST00000637214.1:c.69+44363A>G	ENSP00000489997.1:n.69+44363A>G
ENST00000609686.3:c.2998A>G	ENSP00000477455.1:p.Ile1000Val
ENST00000628166.1:n.1258A>G
NM_000834.3:c.2998A>G	NP_000825.2:p.Ile1000Val
XM_005253351.2:c.784A>G	XP_005253408.1:p.Ile262Val
XM_011520628.1:c.2998A>G	XP_011518930.1:p.Ile1000Val
XM_011520629.1:c.2998A>G	XP_011518931.1:p.Ile1000Val
XM_011520630.1:c.2998A>G	XP_011518932.1:p.Ile1000Val
NM_000834.4:c.2998A>G	NP_000825.2:p.Ile1000Val
XM_005253351.3:c.784A>G	XP_005253408.1:p.Ile262Val
XM_011520628.2:c.2998A>G	XP_011518930.1:p.Ile1000Val
XM_011520629.2:c.2998A>G	XP_011518931.1:p.Ile1000Val
XM_017019219.2:c.2998A>G	XP_016874708.1:p.Ile1000Val
NM_000834.5:c.2998A>G MANE Select	NP_000825.2:p.Ile1000Val