Canonical Allele Identifier: CA383999011

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 916604
• ClinVar RCV Id: RCV001172357
• dbSNP Id: rs1555103959
• MyVariant Identifiers: chr12:g.13724778G>A (hg19) ; chr12:g.13571844G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571844G>A , CM000674.2:g.13571844G>A	GRCh38
NC_000012.11:g.13724778G>A , CM000674.1:g.13724778G>A	GRCh37
NC_000012.10:g.13616045G>A	NCBI36
NG_031854.1:g.413245C>T
NG_031854.2:g.415169C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2131C>T MANE Select	ENSP00000477455.1:p.Gln711Ter
ENST00000628166.2:n.391C>T
ENST00000637214.1:c.69+36759C>T	ENSP00000489997.1:n.69+36759C>T
ENST00000609686.3:c.2131C>T	ENSP00000477455.1:p.Gln711Ter
ENST00000628166.1:n.391C>T
NM_000834.3:c.2131C>T	NP_000825.2:p.Gln711Ter
XM_005253351.2:c.-43-1827C>T	XP_005253408.1:n.-43-1827C>T
XM_011520628.1:c.2131C>T	XP_011518930.1:p.Gln711Ter
XM_011520629.1:c.2131C>T	XP_011518931.1:p.Gln711Ter
XM_011520630.1:c.2131C>T	XP_011518932.1:p.Gln711Ter
NM_000834.4:c.2131C>T	NP_000825.2:p.Gln711Ter
XM_005253351.3:c.-43-1827C>T	XP_005253408.1:n.-43-1827C>T
XM_011520628.2:c.2131C>T	XP_011518930.1:p.Gln711Ter
XM_011520629.2:c.2131C>T	XP_011518931.1:p.Gln711Ter
XM_017019219.2:c.2131C>T	XP_016874708.1:p.Gln711Ter
NM_000834.5:c.2131C>T MANE Select	NP_000825.2:p.Gln711Ter