Canonical Allele Identifier: CA383993747

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 956942
• ClinVar RCV Id: RCV001229836
• dbSNP Id: rs1555102548
• MyVariant Identifiers: chr12:g.13717417G>A (hg19) ; chr12:g.13564483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13564483G>A , CM000674.2:g.13564483G>A	GRCh38
NC_000012.11:g.13717417G>A , CM000674.1:g.13717417G>A	GRCh37
NC_000012.10:g.13608684G>A	NCBI36
NG_031854.1:g.420606C>T
NG_031854.2:g.422530C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2755C>T MANE Select	ENSP00000477455.1:p.Gln919Ter
ENST00000637214.1:c.69+44120C>T	ENSP00000489997.1:n.69+44120C>T
ENST00000609686.3:c.2755C>T	ENSP00000477455.1:p.Gln919Ter
ENST00000628166.1:n.1015C>T
NM_000834.3:c.2755C>T	NP_000825.2:p.Gln919Ter
XM_005253351.2:c.541C>T	XP_005253408.1:p.Gln181Ter
XM_011520628.1:c.2755C>T	XP_011518930.1:p.Gln919Ter
XM_011520629.1:c.2755C>T	XP_011518931.1:p.Gln919Ter
XM_011520630.1:c.2755C>T	XP_011518932.1:p.Gln919Ter
NM_000834.4:c.2755C>T	NP_000825.2:p.Gln919Ter
XM_005253351.3:c.541C>T	XP_005253408.1:p.Gln181Ter
XM_011520628.2:c.2755C>T	XP_011518930.1:p.Gln919Ter
XM_011520629.2:c.2755C>T	XP_011518931.1:p.Gln919Ter
XM_017019219.2:c.2755C>T	XP_016874708.1:p.Gln919Ter
NM_000834.5:c.2755C>T MANE Select	NP_000825.2:p.Gln919Ter