Canonical Allele Identifier: CA6461474

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1982082
• ClinVar RCV Id: RCV002794942
• dbSNP Id: rs560849226
• ExAC: 12:14019118 A / G
• gnomAD v2: 12-14019118-A-G
• gnomAD v3: 12-13866184-A-G
• gnomAD v4: 12-13866184-A-G
• MyVariant Identifiers: chr12:g.14019118A>G (hg19) ; chr12:g.13866184A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866184A>G , CM000674.2:g.13866184A>G	GRCh38
NC_000012.11:g.14019118A>G , CM000674.1:g.14019118A>G	GRCh37
NC_000012.10:g.13910385A>G	NCBI36
NG_031854.1:g.118905T>C
NG_031854.2:g.120829T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.25T>C MANE Select	ENSP00000477455.1:p.Ser9Pro
ENST00000630791.2:c.25T>C	ENSP00000486677.2:p.Ser9Pro
ENST00000609686.3:c.25T>C	ENSP00000477455.1:p.Ser9Pro
ENST00000627535.2:c.25T>C	ENSP00000486411.1:p.Ser9Pro
ENST00000630791.1:c.25T>C	ENSP00000486677.1:p.Ser9Pro
NM_000834.3:c.25T>C	NP_000825.2:p.Ser9Pro
XM_011520628.1:c.25T>C	XP_011518930.1:p.Ser9Pro
XM_011520629.1:c.25T>C	XP_011518931.1:p.Ser9Pro
XM_011520630.1:c.25T>C	XP_011518932.1:p.Ser9Pro
NM_000834.4:c.25T>C	NP_000825.2:p.Ser9Pro
XM_011520628.2:c.25T>C	XP_011518930.1:p.Ser9Pro
XM_011520629.2:c.25T>C	XP_011518931.1:p.Ser9Pro
XM_017019219.2:c.25T>C	XP_016874708.1:p.Ser9Pro
NM_000834.5:c.25T>C MANE Select	NP_000825.2:p.Ser9Pro