Canonical Allele Identifier: CA384051239

Gene: GRIN2B

Linked Data

• MyVariant Identifiers: chr12:g.13761710C>G (hg19) ; chr12:g.13608776C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13608776C>G , CM000674.2:g.13608776C>G	GRCh38
NC_000012.11:g.13761710C>G , CM000674.1:g.13761710C>G	GRCh37
NC_000012.10:g.13652977C>G	NCBI36
NG_031854.1:g.376313G>C
NG_031854.2:g.378237G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1837G>C MANE Select	ENSP00000477455.1:p.Val613Leu
ENST00000628166.2:n.97G>C
ENST00000609686.3:c.1837G>C	ENSP00000477455.1:p.Val613Leu
ENST00000628166.1:n.97G>C
NM_000834.3:c.1837G>C	NP_000825.2:p.Val613Leu
XM_011520628.1:c.1837G>C	XP_011518930.1:p.Val613Leu
XM_011520629.1:c.1837G>C	XP_011518931.1:p.Val613Leu
XM_011520630.1:c.1837G>C	XP_011518932.1:p.Val613Leu
XR_931372.1:n.179-6322C>G
XR_931373.1:n.318+19C>G
NM_000834.4:c.1837G>C	NP_000825.2:p.Val613Leu
XM_011520628.2:c.1837G>C	XP_011518930.1:p.Val613Leu
XM_011520629.2:c.1837G>C	XP_011518931.1:p.Val613Leu
XM_017019219.2:c.1837G>C	XP_016874708.1:p.Val613Leu
XR_001749013.1:n.457+19C>G
XR_931372.2:n.316-6322C>G
XR_931373.2:n.457+19C>G
NM_000834.5:c.1837G>C MANE Select	NP_000825.2:p.Val613Leu