Canonical Allele Identifier: CA394799002

Gene: GRIN2A

Linked Data

• gnomAD v4: 16-9938407-C-G
• MyVariant Identifiers: chr16:g.10032264C>G (hg19) ; chr16:g.9938407C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938407C>G , CM000678.2:g.9938407C>G	GRCh38
NC_000016.9:g.10032264C>G , CM000678.1:g.10032264C>G	GRCh37
NC_000016.8:g.9939765C>G	NCBI36
NG_011812.1:g.249348G>C
NG_011812.2:g.249348G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.559G>C MANE Select	ENSP00000332549.3:p.Val187Leu
ENST00000535259.6:c.88G>C	ENSP00000441572.3:p.Val30Leu
ENST00000636273.2:n.152G>C
ENST00000637393.1:c.151G>C	ENSP00000490232.1:p.Val51Leu
ENST00000674742.1:c.88G>C	ENSP00000502200.1:p.Val30Leu
ENST00000675189.1:n.1043G>C
ENST00000675398.1:c.559G>C	ENSP00000502752.1:p.Val187Leu
ENST00000330684.3:c.559G>C	ENSP00000332549.3:p.Val187Leu
ENST00000396573.6:c.559G>C	ENSP00000379818.2:p.Val187Leu
ENST00000396575.6:c.148G>C	ENSP00000379820.3:p.Val50Leu
ENST00000461292.3:n.198G>C
ENST00000535259.5:c.148G>C	ENSP00000441572.2:p.Val50Leu
ENST00000562109.5:c.559G>C	ENSP00000454998.1:p.Val187Leu
ENST00000566670.2:n.401G>C
ENST00000566683.1:n.241-47307G>C
ENST00000568247.3:n.451G>C
NM_000833.4:c.559G>C	NP_000824.1:p.Val187Leu
NM_001134407.2:c.559G>C	NP_001127879.1:p.Val187Leu
NM_001134408.2:c.559G>C	NP_001127880.1:p.Val187Leu
XM_011522456.1:c.400G>C	XP_011520758.1:p.Val134Leu
XM_011522457.1:c.301G>C	XP_011520759.1:p.Val101Leu
XM_011522458.1:c.88G>C	XP_011520760.1:p.Val30Leu
XM_011522459.1:c.88G>C	XP_011520761.1:p.Val30Leu
XM_011522460.1:c.88G>C	XP_011520762.1:p.Val30Leu
XM_011522461.1:c.559G>C	XP_011520763.1:p.Val187Leu
XM_011522458.3:c.88G>C	XP_011520760.1:p.Val30Leu
XM_011522461.3:c.559G>C	XP_011520763.1:p.Val187Leu
XM_017023172.1:c.715G>C	XP_016878661.1:p.Val239Leu
XM_017023173.1:c.715G>C	XP_016878662.1:p.Val239Leu
NM_001134407.3:c.559G>C MANE Select	NP_001127879.1:p.Val187Leu
NM_000833.5:c.559G>C	NP_000824.1:p.Val187Leu