Canonical Allele Identifier: CA394797757

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 2082433
• ClinVar RCV Id: RCV003007274
• dbSNP Id: rs1423127538
• gnomAD v2: 16-9916172-G-A
• gnomAD v3: 16-9822315-G-A
• gnomAD v4: 16-9822315-G-A
• MyVariant Identifiers: chr16:g.9916172G>A (hg19) ; chr16:g.9822315G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9822315G>A , CM000678.2:g.9822315G>A	GRCh38
NC_000016.9:g.9916172G>A , CM000678.1:g.9916172G>A	GRCh37
NC_000016.8:g.9823673G>A	NCBI36
NG_011812.1:g.365440C>T
NG_011812.2:g.365440C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.2117C>T MANE Select	ENSP00000332549.3:p.Thr706Ile
ENST00000535259.6:c.1646C>T	ENSP00000441572.3:p.Thr549Ile
ENST00000636273.2:n.1710C>T
ENST00000674742.1:c.1646C>T	ENSP00000502200.1:p.Thr549Ile
ENST00000675398.1:c.2117C>T	ENSP00000502752.1:p.Thr706Ile
ENST00000330684.3:c.2117C>T	ENSP00000332549.3:p.Thr706Ile
ENST00000396573.6:c.2117C>T	ENSP00000379818.2:p.Thr706Ile
ENST00000396575.6:c.1706C>T	ENSP00000379820.3:p.Thr569Ile
ENST00000461292.3:n.1756C>T
ENST00000535259.5:c.1706C>T	ENSP00000441572.2:p.Thr569Ile
ENST00000562109.5:c.2117C>T	ENSP00000454998.1:p.Thr706Ile
NM_000833.4:c.2117C>T	NP_000824.1:p.Thr706Ile
NM_001134407.2:c.2117C>T	NP_001127879.1:p.Thr706Ile
NM_001134408.2:c.2117C>T	NP_001127880.1:p.Thr706Ile
XM_011522456.1:c.1958C>T	XP_011520758.1:p.Thr653Ile
XM_011522457.1:c.1859C>T	XP_011520759.1:p.Thr620Ile
XM_011522458.1:c.1646C>T	XP_011520760.1:p.Thr549Ile
XM_011522459.1:c.1646C>T	XP_011520761.1:p.Thr549Ile
XM_011522460.1:c.1646C>T	XP_011520762.1:p.Thr549Ile
XM_011522461.1:c.2117C>T	XP_011520763.1:p.Thr706Ile
XM_011522458.3:c.1646C>T	XP_011520760.1:p.Thr549Ile
XM_011522461.3:c.2117C>T	XP_011520763.1:p.Thr706Ile
XM_017023172.1:c.2273C>T	XP_016878661.1:p.Thr758Ile
XM_017023173.1:c.2273C>T	XP_016878662.1:p.Thr758Ile
NM_001134407.3:c.2117C>T MANE Select	NP_001127879.1:p.Thr706Ile
NM_000833.5:c.2117C>T	NP_000824.1:p.Thr706Ile