Canonical Allele Identifier: CA603450244

Gene: GRIN2B

Linked Data

• dbSNP Id: rs1320795708
• gnomAD v2: 12-13767974-TG-T
• gnomAD v3: 12-13615040-TG-T
• gnomAD v4: 12-13615040-TG-T
• MyVariant Identifiers: chr12:g.13767975del (hg19) ; chr12:g.13615041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615041del , CM000674.2:g.13615041del	GRCh38
NC_000012.11:g.13767975del , CM000674.1:g.13767975del	GRCh37
NC_000012.10:g.13659242del	NCBI36
NG_031854.1:g.370048del
NG_031854.2:g.371972del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1654+73del MANE Select	ENSP00000477455.1:n.1654+73del
ENST00000609686.3:c.1654+73del	ENSP00000477455.1:n.1654+73del
NM_000834.3:c.1654+73del	NP_000825.2:n.1654+73del
XM_011520628.1:c.1654+73del	XP_011518930.1:n.1654+73del
XM_011520629.1:c.1654+73del	XP_011518931.1:n.1654+73del
XM_011520630.1:c.1654+73del	XP_011518932.1:n.1654+73del
XR_931372.1:n.179-57del
XR_931373.1:n.319-57del
XR_931374.1:n.118-57del
NM_000834.4:c.1654+73del	NP_000825.2:n.1654+73del
XM_011520628.2:c.1654+73del	XP_011518930.1:n.1654+73del
XM_011520629.2:c.1654+73del	XP_011518931.1:n.1654+73del
XM_017019219.2:c.1654+73del	XP_016874708.1:n.1654+73del
XR_001749013.1:n.600-57del
XR_931372.2:n.316-57del
XR_931373.2:n.458-57del
NM_000834.5:c.1654+73del MANE Select	NP_000825.2:n.1654+73del