Canonical Allele Identifier: CA383990535

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1425587541
• gnomAD v2: 12-13716985-T-C
• MyVariant Identifiers: chr12:g.13716985T>C (hg19) ; chr12:g.13564051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564051T>C , CM000674.2:g.13564051T>C	GRCh38
NC_000012.11:g.13716985T>C , CM000674.1:g.13716985T>C	GRCh37
NC_000012.10:g.13608252T>C	NCBI36
NG_031854.1:g.421038A>G
NG_031854.2:g.422962A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3187A>G MANE Select	ENSP00000477455.1:p.Ile1063Val
ENST00000637214.1:c.69+44552A>G	ENSP00000489997.1:n.69+44552A>G
ENST00000609686.3:c.3187A>G	ENSP00000477455.1:p.Ile1063Val
ENST00000628166.1:n.1447A>G
NM_000834.3:c.3187A>G	NP_000825.2:p.Ile1063Val
XM_005253351.2:c.973A>G	XP_005253408.1:p.Ile325Val
XM_011520628.1:c.3187A>G	XP_011518930.1:p.Ile1063Val
XM_011520629.1:c.3187A>G	XP_011518931.1:p.Ile1063Val
XM_011520630.1:c.3187A>G	XP_011518932.1:p.Ile1063Val
NM_000834.4:c.3187A>G	NP_000825.2:p.Ile1063Val
XM_005253351.3:c.973A>G	XP_005253408.1:p.Ile325Val
XM_011520628.2:c.3187A>G	XP_011518930.1:p.Ile1063Val
XM_011520629.2:c.3187A>G	XP_011518931.1:p.Ile1063Val
XM_017019219.2:c.3187A>G	XP_016874708.1:p.Ile1063Val
NM_000834.5:c.3187A>G MANE Select	NP_000825.2:p.Ile1063Val