Canonical Allele Identifier: CA685628167

Gene: GRIN2B

Linked Data

• dbSNP Id: rs746849499
• gnomAD v4: 12-13611684-GA-G
• MyVariant Identifiers: chr12:g.13764619del (hg19) ; chr12:g.13611685del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13611691del , CM000674.2:g.13611691del	GRCh38
NC_000012.11:g.13764625del , CM000674.1:g.13764625del	GRCh37
NC_000012.10:g.13655892del	NCBI36
NG_031854.1:g.373404del
NG_031854.2:g.375328del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1780+40del MANE Select	ENSP00000477455.1:n.1780+40del
ENST00000609686.3:c.1780+40del	ENSP00000477455.1:n.1780+40del
NM_000834.3:c.1780+40del	NP_000825.2:n.1780+40del
XM_011520628.1:c.1780+40del	XP_011518930.1:n.1780+40del
XM_011520629.1:c.1780+40del	XP_011518931.1:n.1780+40del
XM_011520630.1:c.1780+40del	XP_011518932.1:n.1780+40del
XR_931372.1:n.179-3407del
XR_931373.1:n.318+2934del
XR_931374.1:n.117+1091del
NM_000834.4:c.1780+40del	NP_000825.2:n.1780+40del
XM_011520628.2:c.1780+40del	XP_011518930.1:n.1780+40del
XM_011520629.2:c.1780+40del	XP_011518931.1:n.1780+40del
XM_017019219.2:c.1780+40del	XP_016874708.1:n.1780+40del
XR_001749013.1:n.599+1091del
XR_931372.2:n.316-3407del
XR_931373.2:n.457+2934del
NM_000834.5:c.1780+40del MANE Select	NP_000825.2:n.1780+40del