Canonical Allele Identifier: CA384051243

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13761712A>T (hg19) ; chr12:g.13608778A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608778A>T , CM000674.2:g.13608778A>T	GRCh38
NC_000012.11:g.13761712A>T , CM000674.1:g.13761712A>T	GRCh37
NC_000012.10:g.13652979A>T	NCBI36
NG_031854.1:g.376311T>A
NG_031854.2:g.378235T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1835T>A MANE Select	ENSP00000477455.1:p.Leu612Gln
ENST00000628166.2:n.95T>A
ENST00000609686.3:c.1835T>A	ENSP00000477455.1:p.Leu612Gln
ENST00000628166.1:n.95T>A
NM_000834.3:c.1835T>A	NP_000825.2:p.Leu612Gln
XM_011520628.1:c.1835T>A	XP_011518930.1:p.Leu612Gln
XM_011520629.1:c.1835T>A	XP_011518931.1:p.Leu612Gln
XM_011520630.1:c.1835T>A	XP_011518932.1:p.Leu612Gln
XR_931372.1:n.179-6320A>T
XR_931373.1:n.318+21A>T
NM_000834.4:c.1835T>A	NP_000825.2:p.Leu612Gln
XM_011520628.2:c.1835T>A	XP_011518930.1:p.Leu612Gln
XM_011520629.2:c.1835T>A	XP_011518931.1:p.Leu612Gln
XM_017019219.2:c.1835T>A	XP_016874708.1:p.Leu612Gln
XR_001749013.1:n.457+21A>T
XR_931372.2:n.316-6320A>T
XR_931373.2:n.457+21A>T
NM_000834.5:c.1835T>A MANE Select	NP_000825.2:p.Leu612Gln