Canonical Allele Identifier: CA384052301

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2572350
• ClinVar RCV Id: RCV003314235
• MyVariant Identifiers: chr12:g.13768545C>T (hg19) ; chr12:g.13615611C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13615611C>T , CM000674.2:g.13615611C>T	GRCh38
NC_000012.11:g.13768545C>T , CM000674.1:g.13768545C>T	GRCh37
NC_000012.10:g.13659812C>T	NCBI36
NG_031854.1:g.369478G>A
NG_031854.2:g.371402G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000609686.4:c.1382G>A MANE Select	ENSP00000477455.1:p.Cys461Tyr
ENST00000630791.2:c.1382G>A	ENSP00000486677.2:p.Cys461Tyr
ENST00000609686.3:c.1382G>A	ENSP00000477455.1:p.Cys461Tyr
NM_000834.3:c.1382G>A	NP_000825.2:p.Cys461Tyr
XM_011520628.1:c.1382G>A	XP_011518930.1:p.Cys461Tyr
XM_011520629.1:c.1382G>A	XP_011518931.1:p.Cys461Tyr
XM_011520630.1:c.1382G>A	XP_011518932.1:p.Cys461Tyr
XR_931372.1:n.307+385C>T
XR_931373.1:n.447+385C>T
XR_931374.1:n.246+385C>T
NM_000834.4:c.1382G>A	NP_000825.2:p.Cys461Tyr
XM_011520628.2:c.1382G>A	XP_011518930.1:p.Cys461Tyr
XM_011520629.2:c.1382G>A	XP_011518931.1:p.Cys461Tyr
XM_017019219.2:c.1382G>A	XP_016874708.1:p.Cys461Tyr
XR_001749013.1:n.728+385C>T
XR_931372.2:n.444+385C>T
XR_931373.2:n.586+385C>T
NM_000834.5:c.1382G>A MANE Select	NP_000825.2:p.Cys461Tyr