Canonical Allele Identifier: CA383999071

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13724787T>C (hg19) ; chr12:g.13571853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13571853T>C , CM000674.2:g.13571853T>C	GRCh38
NC_000012.11:g.13724787T>C , CM000674.1:g.13724787T>C	GRCh37
NC_000012.10:g.13616054T>C	NCBI36
NG_031854.1:g.413236A>G
NG_031854.2:g.415160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.2122A>G MANE Select	ENSP00000477455.1:p.Lys708Glu
ENST00000628166.2:n.382A>G
ENST00000637214.1:c.69+36750A>G	ENSP00000489997.1:n.69+36750A>G
ENST00000609686.3:c.2122A>G	ENSP00000477455.1:p.Lys708Glu
ENST00000628166.1:n.382A>G
NM_000834.3:c.2122A>G	NP_000825.2:p.Lys708Glu
XM_005253351.2:c.-43-1836A>G	XP_005253408.1:n.-43-1836A>G
XM_011520628.1:c.2122A>G	XP_011518930.1:p.Lys708Glu
XM_011520629.1:c.2122A>G	XP_011518931.1:p.Lys708Glu
XM_011520630.1:c.2122A>G	XP_011518932.1:p.Lys708Glu
NM_000834.4:c.2122A>G	NP_000825.2:p.Lys708Glu
XM_005253351.3:c.-43-1836A>G	XP_005253408.1:n.-43-1836A>G
XM_011520628.2:c.2122A>G	XP_011518930.1:p.Lys708Glu
XM_011520629.2:c.2122A>G	XP_011518931.1:p.Lys708Glu
XM_017019219.2:c.2122A>G	XP_016874708.1:p.Lys708Glu
NM_000834.5:c.2122A>G MANE Select	NP_000825.2:p.Lys708Glu