Canonical Allele Identifier: CA233132172

Gene: GRIN2B

Linked Data

• dbSNP Id: rs564079045
• gnomAD v3: 12-13562569-GAAGAAGGAGAGAACTGTGAA-G
• gnomAD v4: 12-13562569-GAAGAAGGAGAGAACTGTGAA-G
• MyVariant Identifiers: chr12:g.13715504_13715523del (hg19) ; chr12:g.13562570_13562589del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13562573_13562592del , CM000674.2:g.13562573_13562592del	GRCh38
NC_000012.11:g.13715507_13715526del , CM000674.1:g.13715507_13715526del	GRCh37
NC_000012.10:g.13606774_13606793del	NCBI36
NG_031854.1:g.422500_422519del
NG_031854.2:g.424424_424443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.*194_*213del MANE Select	ENSP00000477455.1:n.*194_*213del
ENST00000637214.1:c.69+46014_69+46033del	ENSP00000489997.1:n.69+46014_69+46033del
ENST00000609686.3:c.*194_*213del	ENSP00000477455.1:n.*194_*213del
NM_000834.3:c.*194_*213del	NP_000825.2:n.*194_*213del
XM_005253351.2:c.*194_*213del	XP_005253408.1:n.*194_*213del
XM_011520628.1:c.*194_*213del	XP_011518930.1:n.*194_*213del
XM_011520629.1:c.*194_*213del	XP_011518931.1:n.*194_*213del
XM_011520630.1:c.*194_*213del	XP_011518932.1:n.*194_*213del
NM_000834.4:c.*194_*213del	NP_000825.2:n.*194_*213del
XM_005253351.3:c.*194_*213del	XP_005253408.1:n.*194_*213del
XM_011520628.2:c.*194_*213del	XP_011518930.1:n.*194_*213del
XM_011520629.2:c.*194_*213del	XP_011518931.1:n.*194_*213del
XM_017019219.2:c.*194_*213del	XP_016874708.1:n.*194_*213del
NM_000834.5:c.*194_*213del MANE Select	NP_000825.2:n.*194_*213del