Canonical Allele Identifier: CA6461470

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 478001
• ClinVar RCV Id: RCV000533669 ; RCV001079032
• dbSNP Id: rs374735893
• ExAC: 12:14019098 C / T
• gnomAD v2: 12-14019098-C-T
• gnomAD v3: 12-13866164-C-T
• gnomAD v4: 12-13866164-C-T
• MyVariant Identifiers: chr12:g.14019098C>T (hg19) ; chr12:g.13866164C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866164C>T , CM000674.2:g.13866164C>T	GRCh38
NC_000012.11:g.14019098C>T , CM000674.1:g.14019098C>T	GRCh37
NC_000012.10:g.13910365C>T	NCBI36
NG_031854.1:g.118925G>A
NG_031854.2:g.120849G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.45G>A MANE Select	ENSP00000477455.1:p.Val15=
ENST00000630791.2:c.45G>A	ENSP00000486677.2:p.Val15=
ENST00000609686.3:c.45G>A	ENSP00000477455.1:p.Val15=
ENST00000627535.2:c.45G>A	ENSP00000486411.1:p.Val15=
ENST00000630791.1:c.45G>A	ENSP00000486677.1:p.Val15=
NM_000834.3:c.45G>A	NP_000825.2:p.Val15=
XM_011520628.1:c.45G>A	XP_011518930.1:p.Val15=
XM_011520629.1:c.45G>A	XP_011518931.1:p.Val15=
XM_011520630.1:c.45G>A	XP_011518932.1:p.Val15=
NM_000834.4:c.45G>A	NP_000825.2:p.Val15=
XM_011520628.2:c.45G>A	XP_011518930.1:p.Val15=
XM_011520629.2:c.45G>A	XP_011518931.1:p.Val15=
XM_017019219.2:c.45G>A	XP_016874708.1:p.Val15=
NM_000834.5:c.45G>A MANE Select	NP_000825.2:p.Val15=