Canonical Allele Identifier: CA7896231

Gene: GRIN2A

Linked Data

• dbSNP Id: rs759696882
• ExAC: 16:9857458 C / A
• gnomAD v2: 16-9857458-C-A
• gnomAD v4: 16-9763601-C-A
• MyVariant Identifiers: chr16:g.9857458C>A (hg19) ; chr16:g.9763601C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763601C>A , CM000678.2:g.9763601C>A	GRCh38
NC_000016.9:g.9857458C>A , CM000678.1:g.9857458C>A	GRCh37
NC_000016.8:g.9764959C>A	NCBI36
NG_011812.1:g.424154G>T
NG_011812.2:g.424154G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.3943G>T MANE Select	ENSP00000332549.3:p.Asp1315Tyr
ENST00000535259.6:c.3301+171G>T	ENSP00000441572.3:n.3301+171G>T
ENST00000636273.2:n.3365+171G>T
ENST00000674742.1:c.3472G>T	ENSP00000502200.1:p.Asp1158Tyr
ENST00000675398.1:c.*1313G>T	ENSP00000502752.1:n.*1313G>T
ENST00000330684.3:c.3943G>T	ENSP00000332549.3:p.Asp1315Tyr
ENST00000396573.6:c.3943G>T	ENSP00000379818.2:p.Asp1315Tyr
ENST00000396575.6:c.3532G>T	ENSP00000379820.3:p.Asp1178Tyr
ENST00000461292.3:n.3411+171G>T
ENST00000535259.5:c.3361+171G>T	ENSP00000441572.2:n.3361+171G>T
ENST00000562109.5:c.3772+171G>T	ENSP00000454998.1:n.3772+171G>T
NM_000833.4:c.3943G>T	NP_000824.1:p.Asp1315Tyr
NM_001134407.2:c.3943G>T	NP_001127879.1:p.Asp1315Tyr
NM_001134408.2:c.3772+171G>T	NP_001127880.1:n.3772+171G>T
XM_011522456.1:c.3784G>T	XP_011520758.1:p.Asp1262Tyr
XM_011522457.1:c.3685G>T	XP_011520759.1:p.Asp1229Tyr
XM_011522458.1:c.3472G>T	XP_011520760.1:p.Asp1158Tyr
XM_011522459.1:c.3472G>T	XP_011520761.1:p.Asp1158Tyr
XM_011522460.1:c.3472G>T	XP_011520762.1:p.Asp1158Tyr
XM_011522461.1:c.3772+171G>T	XP_011520763.1:n.3772+171G>T
XM_011522458.3:c.3472G>T	XP_011520760.1:p.Asp1158Tyr
XM_011522461.3:c.3772+171G>T	XP_011520763.1:n.3772+171G>T
XM_017023172.1:c.4099G>T	XP_016878661.1:p.Asp1367Tyr
XM_017023173.1:c.3928+171G>T	XP_016878662.1:n.3928+171G>T
NM_001134407.3:c.3943G>T MANE Select	NP_001127879.1:p.Asp1315Tyr
NM_000833.5:c.3943G>T	NP_000824.1:p.Asp1315Tyr