Canonical Allele Identifier: CA383993780

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 546700
• ClinVar RCV Id: RCV003767899
• dbSNP Id: rs1555102552
• gnomAD v4: 12-13564488-G-A
• MyVariant Identifiers: chr12:g.13717422G>A (hg19) ; chr12:g.13564488G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564488G>A , CM000674.2:g.13564488G>A	GRCh38
NC_000012.11:g.13717422G>A , CM000674.1:g.13717422G>A	GRCh37
NC_000012.10:g.13608689G>A	NCBI36
NG_031854.1:g.420601C>T
NG_031854.2:g.422525C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2750C>T MANE Select	ENSP00000477455.1:p.Ser917Leu
ENST00000637214.1:c.69+44115C>T	ENSP00000489997.1:n.69+44115C>T
ENST00000609686.3:c.2750C>T	ENSP00000477455.1:p.Ser917Leu
ENST00000628166.1:n.1010C>T
NM_000834.3:c.2750C>T	NP_000825.2:p.Ser917Leu
XM_005253351.2:c.536C>T	XP_005253408.1:p.Ser179Leu
XM_011520628.1:c.2750C>T	XP_011518930.1:p.Ser917Leu
XM_011520629.1:c.2750C>T	XP_011518931.1:p.Ser917Leu
XM_011520630.1:c.2750C>T	XP_011518932.1:p.Ser917Leu
NM_000834.4:c.2750C>T	NP_000825.2:p.Ser917Leu
XM_005253351.3:c.536C>T	XP_005253408.1:p.Ser179Leu
XM_011520628.2:c.2750C>T	XP_011518930.1:p.Ser917Leu
XM_011520629.2:c.2750C>T	XP_011518931.1:p.Ser917Leu
XM_017019219.2:c.2750C>T	XP_016874708.1:p.Ser917Leu
NM_000834.5:c.2750C>T MANE Select	NP_000825.2:p.Ser917Leu