Canonical Allele Identifier: CA394798582

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9938214-T-C
• MyVariant Identifiers: chr16:g.10032071T>C (hg19) ; chr16:g.9938214T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938214T>C , CM000678.2:g.9938214T>C	GRCh38
NC_000016.9:g.10032071T>C , CM000678.1:g.10032071T>C	GRCh37
NC_000016.8:g.9939572T>C	NCBI36
NG_011812.1:g.249541A>G
NG_011812.2:g.249541A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.752A>G MANE Select	ENSP00000332549.3:p.Tyr251Cys
ENST00000535259.6:c.281A>G	ENSP00000441572.3:p.Tyr94Cys
ENST00000636273.2:n.345A>G
ENST00000637393.1:c.344A>G	ENSP00000490232.1:p.Tyr115Cys
ENST00000674742.1:c.281A>G	ENSP00000502200.1:p.Tyr94Cys
ENST00000675189.1:n.1236A>G
ENST00000675398.1:c.752A>G	ENSP00000502752.1:p.Tyr251Cys
ENST00000330684.3:c.752A>G	ENSP00000332549.3:p.Tyr251Cys
ENST00000396573.6:c.752A>G	ENSP00000379818.2:p.Tyr251Cys
ENST00000396575.6:c.341A>G	ENSP00000379820.3:p.Tyr114Cys
ENST00000461292.3:n.391A>G
ENST00000535259.5:c.341A>G	ENSP00000441572.2:p.Tyr114Cys
ENST00000562109.5:c.752A>G	ENSP00000454998.1:p.Tyr251Cys
ENST00000566670.2:n.594A>G
ENST00000566683.1:n.241-47114A>G
ENST00000568247.3:n.644A>G
NM_000833.4:c.752A>G	NP_000824.1:p.Tyr251Cys
NM_001134407.2:c.752A>G	NP_001127879.1:p.Tyr251Cys
NM_001134408.2:c.752A>G	NP_001127880.1:p.Tyr251Cys
XM_011522456.1:c.593A>G	XP_011520758.1:p.Tyr198Cys
XM_011522457.1:c.494A>G	XP_011520759.1:p.Tyr165Cys
XM_011522458.1:c.281A>G	XP_011520760.1:p.Tyr94Cys
XM_011522459.1:c.281A>G	XP_011520761.1:p.Tyr94Cys
XM_011522460.1:c.281A>G	XP_011520762.1:p.Tyr94Cys
XM_011522461.1:c.752A>G	XP_011520763.1:p.Tyr251Cys
XM_011522458.3:c.281A>G	XP_011520760.1:p.Tyr94Cys
XM_011522461.3:c.752A>G	XP_011520763.1:p.Tyr251Cys
XM_017023172.1:c.908A>G	XP_016878661.1:p.Tyr303Cys
XM_017023173.1:c.908A>G	XP_016878662.1:p.Tyr303Cys
NM_001134407.3:c.752A>G MANE Select	NP_001127879.1:p.Tyr251Cys
NM_000833.5:c.752A>G	NP_000824.1:p.Tyr251Cys