Canonical Allele Identifier: CA394798225

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2044757017
• gnomAD v4: 16-9938048-C-T
• MyVariant Identifiers: chr16:g.10031905C>T (hg19) ; chr16:g.9938048C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938048C>T , CM000678.2:g.9938048C>T	GRCh38
NC_000016.9:g.10031905C>T , CM000678.1:g.10031905C>T	GRCh37
NC_000016.8:g.9939406C>T	NCBI36
NG_011812.1:g.249707G>A
NG_011812.2:g.249707G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.918G>A MANE Select	ENSP00000332549.3:p.Met306Ile
ENST00000535259.6:c.447G>A	ENSP00000441572.3:p.Met149Ile
ENST00000636273.2:n.511G>A
ENST00000637393.1:c.510G>A	ENSP00000490232.1:p.Met170Ile
ENST00000674742.1:c.447G>A	ENSP00000502200.1:p.Met149Ile
ENST00000675189.1:n.1402G>A
ENST00000675398.1:c.918G>A	ENSP00000502752.1:p.Met306Ile
ENST00000330684.3:c.918G>A	ENSP00000332549.3:p.Met306Ile
ENST00000396573.6:c.918G>A	ENSP00000379818.2:p.Met306Ile
ENST00000396575.6:c.507G>A	ENSP00000379820.3:p.Met169Ile
ENST00000461292.3:n.557G>A
ENST00000535259.5:c.507G>A	ENSP00000441572.2:p.Met169Ile
ENST00000562109.5:c.918G>A	ENSP00000454998.1:p.Met306Ile
ENST00000566683.1:n.241-46948G>A
ENST00000568247.3:n.810G>A
NM_000833.4:c.918G>A	NP_000824.1:p.Met306Ile
NM_001134407.2:c.918G>A	NP_001127879.1:p.Met306Ile
NM_001134408.2:c.918G>A	NP_001127880.1:p.Met306Ile
XM_011522456.1:c.759G>A	XP_011520758.1:p.Met253Ile
XM_011522457.1:c.660G>A	XP_011520759.1:p.Met220Ile
XM_011522458.1:c.447G>A	XP_011520760.1:p.Met149Ile
XM_011522459.1:c.447G>A	XP_011520761.1:p.Met149Ile
XM_011522460.1:c.447G>A	XP_011520762.1:p.Met149Ile
XM_011522461.1:c.918G>A	XP_011520763.1:p.Met306Ile
XM_011522458.3:c.447G>A	XP_011520760.1:p.Met149Ile
XM_011522461.3:c.918G>A	XP_011520763.1:p.Met306Ile
XM_017023172.1:c.1074G>A	XP_016878661.1:p.Met358Ile
XM_017023173.1:c.1074G>A	XP_016878662.1:p.Met358Ile
NM_001134407.3:c.918G>A MANE Select	NP_001127879.1:p.Met306Ile
NM_000833.5:c.918G>A	NP_000824.1:p.Met306Ile