Canonical Allele Identifier: CA383990474

Gene: GRIN2B

Linked Data

• gnomAD v4: 12-13564038-G-T
• MyVariant Identifiers: chr12:g.13716972G>T (hg19) ; chr12:g.13564038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564038G>T , CM000674.2:g.13564038G>T	GRCh38
NC_000012.11:g.13716972G>T , CM000674.1:g.13716972G>T	GRCh37
NC_000012.10:g.13608239G>T	NCBI36
NG_031854.1:g.421051C>A
NG_031854.2:g.422975C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.3200C>A MANE Select	ENSP00000477455.1:p.Thr1067Asn
ENST00000637214.1:c.69+44565C>A	ENSP00000489997.1:n.69+44565C>A
ENST00000609686.3:c.3200C>A	ENSP00000477455.1:p.Thr1067Asn
ENST00000628166.1:n.1460C>A
NM_000834.3:c.3200C>A	NP_000825.2:p.Thr1067Asn
XM_005253351.2:c.986C>A	XP_005253408.1:p.Thr329Asn
XM_011520628.1:c.3200C>A	XP_011518930.1:p.Thr1067Asn
XM_011520629.1:c.3200C>A	XP_011518931.1:p.Thr1067Asn
XM_011520630.1:c.3200C>A	XP_011518932.1:p.Thr1067Asn
NM_000834.4:c.3200C>A	NP_000825.2:p.Thr1067Asn
XM_005253351.3:c.986C>A	XP_005253408.1:p.Thr329Asn
XM_011520628.2:c.3200C>A	XP_011518930.1:p.Thr1067Asn
XM_011520629.2:c.3200C>A	XP_011518931.1:p.Thr1067Asn
XM_017019219.2:c.3200C>A	XP_016874708.1:p.Thr1067Asn
NM_000834.5:c.3200C>A MANE Select	NP_000825.2:p.Thr1067Asn