Canonical Allele Identifier: CA394715100

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 807992
• ClinVar RCV Id: RCV000996209
• dbSNP Id: rs1596586834
• MyVariant Identifiers: chr16:g.10273871A>G (hg19) ; chr16:g.10180014A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180014A>G , CM000678.2:g.10180014A>G	GRCh38
NC_000016.9:g.10273871A>G , CM000678.1:g.10273871A>G	GRCh37
NC_000016.8:g.10181372A>G	NCBI36
NG_011812.1:g.7741T>C
NG_011812.2:g.7741T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.398T>C MANE Select	ENSP00000332549.3:p.Met133Thr
ENST00000637334.1:n.77T>C
ENST00000675189.1:n.882T>C
ENST00000675398.1:c.398T>C	ENSP00000502752.1:p.Met133Thr
ENST00000676032.1:n.831T>C
ENST00000330684.3:c.398T>C	ENSP00000332549.3:p.Met133Thr
ENST00000396573.6:c.398T>C	ENSP00000379818.2:p.Met133Thr
ENST00000562109.5:c.398T>C	ENSP00000454998.1:p.Met133Thr
ENST00000566665.1:n.799T>C
NM_000833.4:c.398T>C	NP_000824.1:p.Met133Thr
NM_001134407.2:c.398T>C	NP_001127879.1:p.Met133Thr
NM_001134408.2:c.398T>C	NP_001127880.1:p.Met133Thr
XM_011522461.1:c.398T>C	XP_011520763.1:p.Met133Thr
XM_011522461.3:c.398T>C	XP_011520763.1:p.Met133Thr
XM_017023172.1:c.554T>C	XP_016878661.1:p.Met185Thr
XM_017023173.1:c.554T>C	XP_016878662.1:p.Met185Thr
NM_001134407.3:c.398T>C MANE Select	NP_001127879.1:p.Met133Thr
NM_000833.5:c.398T>C	NP_000824.1:p.Met133Thr