Canonical Allele Identifier: CA7896905

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2544289
• ClinVar RCV Id: RCV003272469
• dbSNP Id: rs759019028
• ExAC: 16:10032077 G / C
• gnomAD v2: 16-10032077-G-C
• gnomAD v4: 16-9938220-G-C
• MyVariant Identifiers: chr16:g.10032077G>C (hg19) ; chr16:g.9938220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938220G>C , CM000678.2:g.9938220G>C	GRCh38
NC_000016.9:g.10032077G>C , CM000678.1:g.10032077G>C	GRCh37
NC_000016.8:g.9939578G>C	NCBI36
NG_011812.1:g.249535C>G
NG_011812.2:g.249535C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.746C>G MANE Select	ENSP00000332549.3:p.Thr249Ser
ENST00000535259.6:c.275C>G	ENSP00000441572.3:p.Thr92Ser
ENST00000636273.2:n.339C>G
ENST00000637393.1:c.338C>G	ENSP00000490232.1:p.Thr113Ser
ENST00000674742.1:c.275C>G	ENSP00000502200.1:p.Thr92Ser
ENST00000675189.1:n.1230C>G
ENST00000675398.1:c.746C>G	ENSP00000502752.1:p.Thr249Ser
ENST00000330684.3:c.746C>G	ENSP00000332549.3:p.Thr249Ser
ENST00000396573.6:c.746C>G	ENSP00000379818.2:p.Thr249Ser
ENST00000396575.6:c.335C>G	ENSP00000379820.3:p.Thr112Ser
ENST00000461292.3:n.385C>G
ENST00000535259.5:c.335C>G	ENSP00000441572.2:p.Thr112Ser
ENST00000562109.5:c.746C>G	ENSP00000454998.1:p.Thr249Ser
ENST00000566670.2:n.588C>G
ENST00000566683.1:n.241-47120C>G
ENST00000568247.3:n.638C>G
NM_000833.4:c.746C>G	NP_000824.1:p.Thr249Ser
NM_001134407.2:c.746C>G	NP_001127879.1:p.Thr249Ser
NM_001134408.2:c.746C>G	NP_001127880.1:p.Thr249Ser
XM_011522456.1:c.587C>G	XP_011520758.1:p.Thr196Ser
XM_011522457.1:c.488C>G	XP_011520759.1:p.Thr163Ser
XM_011522458.1:c.275C>G	XP_011520760.1:p.Thr92Ser
XM_011522459.1:c.275C>G	XP_011520761.1:p.Thr92Ser
XM_011522460.1:c.275C>G	XP_011520762.1:p.Thr92Ser
XM_011522461.1:c.746C>G	XP_011520763.1:p.Thr249Ser
XM_011522458.3:c.275C>G	XP_011520760.1:p.Thr92Ser
XM_011522461.3:c.746C>G	XP_011520763.1:p.Thr249Ser
XM_017023172.1:c.902C>G	XP_016878661.1:p.Thr301Ser
XM_017023173.1:c.902C>G	XP_016878662.1:p.Thr301Ser
NM_001134407.3:c.746C>G MANE Select	NP_001127879.1:p.Thr249Ser
NM_000833.5:c.746C>G	NP_000824.1:p.Thr249Ser