Canonical Allele Identifier: CA2617757589

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13866108-CTGGGGGGGCTCTTCTGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866109_13866126del , CM000674.2:g.13866109_13866126del	GRCh38
NC_000012.11:g.14019043_14019060del , CM000674.1:g.14019043_14019060del	GRCh37
NC_000012.10:g.13910310_13910327del	NCBI36
NG_031854.1:g.118963_118980del
NG_031854.2:g.120887_120904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.83_100del MANE Select	ENSP00000477455.1:p.Ser28_Ser34delinsCys
ENST00000630791.2:c.83_100del	ENSP00000486677.2:p.Ser28_Ser34delinsCys
ENST00000609686.3:c.83_100del	ENSP00000477455.1:p.Ser28_Ser34delinsCys
ENST00000627535.2:c.83_100del	ENSP00000486411.1:p.Ser28_Ser34delinsCys
ENST00000630791.1:c.83_100del	ENSP00000486677.1:p.Ser28_Ser34delinsCys
NM_000834.3:c.83_100del	NP_000825.2:p.Ser28_Ser34delinsCys
XM_011520628.1:c.83_100del	XP_011518930.1:p.Ser28_Ser34delinsCys
XM_011520629.1:c.83_100del	XP_011518931.1:p.Ser28_Ser34delinsCys
XM_011520630.1:c.83_100del	XP_011518932.1:p.Ser28_Ser34delinsCys
NM_000834.4:c.83_100del	NP_000825.2:p.Ser28_Ser34delinsCys
XM_011520628.2:c.83_100del	XP_011518930.1:p.Ser28_Ser34delinsCys
XM_011520629.2:c.83_100del	XP_011518931.1:p.Ser28_Ser34delinsCys
XM_017019219.2:c.83_100del	XP_016874708.1:p.Ser28_Ser34delinsCys
NM_000834.5:c.83_100del MANE Select	NP_000825.2:p.Ser28_Ser34delinsCys