Canonical Allele Identifier: CA277615680

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1490477
• ClinVar RCV Id: RCV001983759
• dbSNP Id: rs933535128
• gnomAD v2: 16-10274000-A-G
• gnomAD v3: 16-10180143-A-G
• gnomAD v4: 16-10180143-A-G
• MyVariant Identifiers: chr16:g.10274000A>G (hg19) ; chr16:g.10180143A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180143A>G , CM000678.2:g.10180143A>G	GRCh38
NC_000016.9:g.10274000A>G , CM000678.1:g.10274000A>G	GRCh37
NC_000016.8:g.10181501A>G	NCBI36
NG_011812.1:g.7612T>C
NG_011812.2:g.7612T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.269T>C MANE Select	ENSP00000332549.3:p.Met90Thr
ENST00000675189.1:n.753T>C
ENST00000675398.1:c.269T>C	ENSP00000502752.1:p.Met90Thr
ENST00000676032.1:n.702T>C
ENST00000330684.3:c.269T>C	ENSP00000332549.3:p.Met90Thr
ENST00000396573.6:c.269T>C	ENSP00000379818.2:p.Met90Thr
ENST00000562109.5:c.269T>C	ENSP00000454998.1:p.Met90Thr
ENST00000566665.1:n.670T>C
NM_000833.4:c.269T>C	NP_000824.1:p.Met90Thr
NM_001134407.2:c.269T>C	NP_001127879.1:p.Met90Thr
NM_001134408.2:c.269T>C	NP_001127880.1:p.Met90Thr
XM_011522461.1:c.269T>C	XP_011520763.1:p.Met90Thr
XM_011522461.3:c.269T>C	XP_011520763.1:p.Met90Thr
XM_017023172.1:c.425T>C	XP_016878661.1:p.Met142Thr
XM_017023173.1:c.425T>C	XP_016878662.1:p.Met142Thr
NM_001134407.3:c.269T>C MANE Select	NP_001127879.1:p.Met90Thr
NM_000833.5:c.269T>C	NP_000824.1:p.Met90Thr