Canonical Allele Identifier: CA478704257

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 1082702
• ClinVar RCV Id: RCV001399093
• dbSNP Id: rs2136415669
• MyVariant Identifiers: chr12:g.13724770A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571836A>G , CM000674.2:g.13571836A>G	GRCh38
NC_000012.11:g.13724770A>G , CM000674.1:g.13724770A>G	GRCh37
NC_000012.10:g.13616037A>G	NCBI36
NG_031854.1:g.413253T>C
NG_031854.2:g.415177T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.2139T>C MANE Select	ENSP00000477455.1:p.Gly713=
ENST00000628166.2:n.399T>C
ENST00000637214.1:c.69+36767T>C	ENSP00000489997.1:n.69+36767T>C
ENST00000609686.3:c.2139T>C	ENSP00000477455.1:p.Gly713=
ENST00000628166.1:n.399T>C
NM_000834.3:c.2139T>C	NP_000825.2:p.Gly713=
XM_005253351.2:c.-43-1819T>C	XP_005253408.1:n.-43-1819T>C
XM_011520628.1:c.2139T>C	XP_011518930.1:p.Gly713=
XM_011520629.1:c.2139T>C	XP_011518931.1:p.Gly713=
XM_011520630.1:c.2139T>C	XP_011518932.1:p.Gly713=
NM_000834.4:c.2139T>C	NP_000825.2:p.Gly713=
XM_005253351.3:c.-43-1819T>C	XP_005253408.1:n.-43-1819T>C
XM_011520628.2:c.2139T>C	XP_011518930.1:p.Gly713=
XM_011520629.2:c.2139T>C	XP_011518931.1:p.Gly713=
XM_017019219.2:c.2139T>C	XP_016874708.1:p.Gly713=
NM_000834.5:c.2139T>C MANE Select	NP_000825.2:p.Gly713=