Canonical Allele Identifier: CA7896330

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1730622
• ClinVar RCV Id: RCV002321090
• dbSNP Id: rs754074897
• ExAC: 16:9858039 T / C
• gnomAD v2: 16-9858039-T-C
• gnomAD v4: 16-9764182-T-C
• MyVariant Identifiers: chr16:g.9858039T>C (hg19) ; chr16:g.9764182T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9764182T>C , CM000678.2:g.9764182T>C	GRCh38
NC_000016.9:g.9858039T>C , CM000678.1:g.9858039T>C	GRCh37
NC_000016.8:g.9765540T>C	NCBI36
NG_011812.1:g.423573A>G
NG_011812.2:g.423573A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3362A>G MANE Select	ENSP00000332549.3:p.Asp1121Gly
ENST00000535259.6:c.2891A>G	ENSP00000441572.3:p.Asp964Gly
ENST00000636273.2:n.2955A>G
ENST00000674742.1:c.2891A>G	ENSP00000502200.1:p.Asp964Gly
ENST00000675398.1:c.*732A>G	ENSP00000502752.1:n.*732A>G
ENST00000330684.3:c.3362A>G	ENSP00000332549.3:p.Asp1121Gly
ENST00000396573.6:c.3362A>G	ENSP00000379818.2:p.Asp1121Gly
ENST00000396575.6:c.2951A>G	ENSP00000379820.3:p.Asp984Gly
ENST00000461292.3:n.3001A>G
ENST00000535259.5:c.2951A>G	ENSP00000441572.2:p.Asp984Gly
ENST00000562109.5:c.3362A>G	ENSP00000454998.1:p.Asp1121Gly
NM_000833.4:c.3362A>G	NP_000824.1:p.Asp1121Gly
NM_001134407.2:c.3362A>G	NP_001127879.1:p.Asp1121Gly
NM_001134408.2:c.3362A>G	NP_001127880.1:p.Asp1121Gly
XM_011522456.1:c.3203A>G	XP_011520758.1:p.Asp1068Gly
XM_011522457.1:c.3104A>G	XP_011520759.1:p.Asp1035Gly
XM_011522458.1:c.2891A>G	XP_011520760.1:p.Asp964Gly
XM_011522459.1:c.2891A>G	XP_011520761.1:p.Asp964Gly
XM_011522460.1:c.2891A>G	XP_011520762.1:p.Asp964Gly
XM_011522461.1:c.3362A>G	XP_011520763.1:p.Asp1121Gly
XM_011522458.3:c.2891A>G	XP_011520760.1:p.Asp964Gly
XM_011522461.3:c.3362A>G	XP_011520763.1:p.Asp1121Gly
XM_017023172.1:c.3518A>G	XP_016878661.1:p.Asp1173Gly
XM_017023173.1:c.3518A>G	XP_016878662.1:p.Asp1173Gly
NM_001134407.3:c.3362A>G MANE Select	NP_001127879.1:p.Asp1121Gly
NM_000833.5:c.3362A>G	NP_000824.1:p.Asp1121Gly