Canonical Allele Identifier: CA478853941

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1768892
• ClinVar RCV Id: RCV002383109
• gnomAD v4: 12-13866109-TG-T
• COSMIC: COSM1360383
• MyVariant Identifiers: chr12:g.14019044del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866116del , CM000674.2:g.13866116del	GRCh38
NC_000012.11:g.14019050del , CM000674.1:g.14019050del	GRCh37
NC_000012.10:g.13910317del	NCBI36
NG_031854.1:g.118979del
NG_031854.2:g.120903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.99del MANE Select	ENSP00000477455.1:p.Ser34AlafsTer?
ENST00000630791.2:c.99del	ENSP00000486677.2:p.Ser34AlafsTer?
ENST00000609686.3:c.99del	ENSP00000477455.1:p.Ser34AlafsTer?
ENST00000627535.2:c.99del	ENSP00000486411.1:p.Ser34AlafsTer?
ENST00000630791.1:c.99del	ENSP00000486677.1:p.Ser34AlafsTer?
NM_000834.3:c.99del	NP_000825.2:p.Ser34AlafsTer?
XM_011520628.1:c.99del	XP_011518930.1:p.Ser34AlafsTer?
XM_011520629.1:c.99del	XP_011518931.1:p.Ser34AlafsTer?
XM_011520630.1:c.99del	XP_011518932.1:p.Ser34AlafsTer?
NM_000834.4:c.99del	NP_000825.2:p.Ser34AlafsTer?
XM_011520628.2:c.99del	XP_011518930.1:p.Ser34AlafsTer?
XM_011520629.2:c.99del	XP_011518931.1:p.Ser34AlafsTer?
XM_017019219.2:c.99del	XP_016874708.1:p.Ser34AlafsTer?
NM_000834.5:c.99del MANE Select	NP_000825.2:p.Ser34AlafsTer?