Canonical Allele Identifier: CA2617718824

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13564140-CTGTGCTTGGAGGAGGGGAGGCCGATGTCCAGGGGCTTCTTGCTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564143_13564187del , CM000674.2:g.13564143_13564187del	GRCh38
NC_000012.11:g.13717077_13717121del , CM000674.1:g.13717077_13717121del	GRCh37
NC_000012.10:g.13608344_13608388del	NCBI36
NG_031854.1:g.420904_420948del
NG_031854.2:g.422828_422872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3053_3097del MANE Select	ENSP00000477455.1:p.Ile1018_His1032del
ENST00000637214.1:c.69+44418_69+44462del	ENSP00000489997.1:n.69+44418_69+44462del
ENST00000609686.3:c.3053_3097del	ENSP00000477455.1:p.Ile1018_His1032del
ENST00000628166.1:n.1313_1357del
NM_000834.3:c.3053_3097del	NP_000825.2:p.Ile1018_His1032del
XM_005253351.2:c.839_883del	XP_005253408.1:p.Ile280_His294del
XM_011520628.1:c.3053_3097del	XP_011518930.1:p.Ile1018_His1032del
XM_011520629.1:c.3053_3097del	XP_011518931.1:p.Ile1018_His1032del
XM_011520630.1:c.3053_3097del	XP_011518932.1:p.Ile1018_His1032del
NM_000834.4:c.3053_3097del	NP_000825.2:p.Ile1018_His1032del
XM_005253351.3:c.839_883del	XP_005253408.1:p.Ile280_His294del
XM_011520628.2:c.3053_3097del	XP_011518930.1:p.Ile1018_His1032del
XM_011520629.2:c.3053_3097del	XP_011518931.1:p.Ile1018_His1032del
XM_017019219.2:c.3053_3097del	XP_016874708.1:p.Ile1018_His1032del
NM_000834.5:c.3053_3097del MANE Select	NP_000825.2:p.Ile1018_His1032del