Canonical Allele Identifier: CA383992448

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1932141
• ClinVar RCV Id: RCV002649359
• dbSNP Id: rs1948602060
• gnomAD v4: 12-13564214-G-T
• MyVariant Identifiers: chr12:g.13717148G>T (hg19) ; chr12:g.13564214G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564214G>T , CM000674.2:g.13564214G>T	GRCh38
NC_000012.11:g.13717148G>T , CM000674.1:g.13717148G>T	GRCh37
NC_000012.10:g.13608415G>T	NCBI36
NG_031854.1:g.420875C>A
NG_031854.2:g.422799C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3024C>A MANE Select	ENSP00000477455.1:p.Asn1008Lys
ENST00000637214.1:c.69+44389C>A	ENSP00000489997.1:n.69+44389C>A
ENST00000609686.3:c.3024C>A	ENSP00000477455.1:p.Asn1008Lys
ENST00000628166.1:n.1284C>A
NM_000834.3:c.3024C>A	NP_000825.2:p.Asn1008Lys
XM_005253351.2:c.810C>A	XP_005253408.1:p.Asn270Lys
XM_011520628.1:c.3024C>A	XP_011518930.1:p.Asn1008Lys
XM_011520629.1:c.3024C>A	XP_011518931.1:p.Asn1008Lys
XM_011520630.1:c.3024C>A	XP_011518932.1:p.Asn1008Lys
NM_000834.4:c.3024C>A	NP_000825.2:p.Asn1008Lys
XM_005253351.3:c.810C>A	XP_005253408.1:p.Asn270Lys
XM_011520628.2:c.3024C>A	XP_011518930.1:p.Asn1008Lys
XM_011520629.2:c.3024C>A	XP_011518931.1:p.Asn1008Lys
XM_017019219.2:c.3024C>A	XP_016874708.1:p.Asn1008Lys
NM_000834.5:c.3024C>A MANE Select	NP_000825.2:p.Asn1008Lys