Canonical Allele Identifier: CA384055010

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1062552
• ClinVar RCV Id: RCV001372285
• dbSNP Id: rs1383833874
• gnomAD v2: 12-14019049-G-A
• gnomAD v4: 12-13866115-G-A
• COSMIC: COSM3458519
• MyVariant Identifiers: chr12:g.14019049G>A (hg19) ; chr12:g.13866115G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866115G>A , CM000674.2:g.13866115G>A	GRCh38
NC_000012.11:g.14019049G>A , CM000674.1:g.14019049G>A	GRCh37
NC_000012.10:g.13910316G>A	NCBI36
NG_031854.1:g.118974C>T
NG_031854.2:g.120898C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.94C>T MANE Select	ENSP00000477455.1:p.Pro32Ser
ENST00000630791.2:c.94C>T	ENSP00000486677.2:p.Pro32Ser
ENST00000609686.3:c.94C>T	ENSP00000477455.1:p.Pro32Ser
ENST00000627535.2:c.94C>T	ENSP00000486411.1:p.Pro32Ser
ENST00000630791.1:c.94C>T	ENSP00000486677.1:p.Pro32Ser
NM_000834.3:c.94C>T	NP_000825.2:p.Pro32Ser
XM_011520628.1:c.94C>T	XP_011518930.1:p.Pro32Ser
XM_011520629.1:c.94C>T	XP_011518931.1:p.Pro32Ser
XM_011520630.1:c.94C>T	XP_011518932.1:p.Pro32Ser
NM_000834.4:c.94C>T	NP_000825.2:p.Pro32Ser
XM_011520628.2:c.94C>T	XP_011518930.1:p.Pro32Ser
XM_011520629.2:c.94C>T	XP_011518931.1:p.Pro32Ser
XM_017019219.2:c.94C>T	XP_016874708.1:p.Pro32Ser
NM_000834.5:c.94C>T MANE Select	NP_000825.2:p.Pro32Ser