Canonical Allele Identifier: CA384054995

Gene: GRIN2B

Linked Data

• ClinVar Variation Id: 2954025
• ClinVar RCV Id: RCV003813248
• MyVariant Identifiers: chr12:g.14019042C>G (hg19) ; chr12:g.13866108C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.13866108C>G , CM000674.2:g.13866108C>G	GRCh38
NC_000012.11:g.14019042C>G , CM000674.1:g.14019042C>G	GRCh37
NC_000012.10:g.13910309C>G	NCBI36
NG_031854.1:g.118981G>C
NG_031854.2:g.120905G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000609686.4:c.101G>C MANE Select	ENSP00000477455.1:p.Ser34Thr
ENST00000630791.2:c.101G>C	ENSP00000486677.2:p.Ser34Thr
ENST00000609686.3:c.101G>C	ENSP00000477455.1:p.Ser34Thr
ENST00000627535.2:c.101G>C	ENSP00000486411.1:p.Ser34Thr
ENST00000630791.1:c.101G>C	ENSP00000486677.1:p.Ser34Thr
NM_000834.3:c.101G>C	NP_000825.2:p.Ser34Thr
XM_011520628.1:c.101G>C	XP_011518930.1:p.Ser34Thr
XM_011520629.1:c.101G>C	XP_011518931.1:p.Ser34Thr
XM_011520630.1:c.101G>C	XP_011518932.1:p.Ser34Thr
NM_000834.4:c.101G>C	NP_000825.2:p.Ser34Thr
XM_011520628.2:c.101G>C	XP_011518930.1:p.Ser34Thr
XM_011520629.2:c.101G>C	XP_011518931.1:p.Ser34Thr
XM_017019219.2:c.101G>C	XP_016874708.1:p.Ser34Thr
NM_000834.5:c.101G>C MANE Select	NP_000825.2:p.Ser34Thr