Canonical Allele Identifier: CA394800147

Gene: GRIN2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9834227G>A , CM000678.2:g.9834227G>A	GRCh38
NC_000016.9:g.9928084G>A , CM000678.1:g.9928084G>A	GRCh37
NC_000016.8:g.9835585G>A	NCBI36
NG_011812.1:g.353528C>T
NG_011812.2:g.353528C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.1655C>T MANE Select	ENSP00000332549.3:p.Pro552Leu
ENST00000535259.6:c.1184C>T	ENSP00000441572.3:p.Pro395Leu
ENST00000636273.2:n.1248C>T
ENST00000674742.1:c.1184C>T	ENSP00000502200.1:p.Pro395Leu
ENST00000675189.1:n.2139C>T
ENST00000675398.1:c.1655C>T	ENSP00000502752.1:p.Pro552Leu
ENST00000330684.3:c.1655C>T	ENSP00000332549.3:p.Pro552Leu
ENST00000396573.6:c.1655C>T	ENSP00000379818.2:p.Pro552Leu
ENST00000396575.6:c.1244C>T	ENSP00000379820.3:p.Pro415Leu
ENST00000461292.3:n.1294C>T
ENST00000535259.5:c.1244C>T	ENSP00000441572.2:p.Pro415Leu
ENST00000562109.5:c.1655C>T	ENSP00000454998.1:p.Pro552Leu
NM_000833.4:c.1655C>T	NP_000824.1:p.Pro552Leu
NM_001134407.2:c.1655C>T	NP_001127879.1:p.Pro552Leu
NM_001134408.2:c.1655C>T	NP_001127880.1:p.Pro552Leu
XM_011522456.1:c.1496C>T	XP_011520758.1:p.Pro499Leu
XM_011522457.1:c.1397C>T	XP_011520759.1:p.Pro466Leu
XM_011522458.1:c.1184C>T	XP_011520760.1:p.Pro395Leu
XM_011522459.1:c.1184C>T	XP_011520761.1:p.Pro395Leu
XM_011522460.1:c.1184C>T	XP_011520762.1:p.Pro395Leu
XM_011522461.1:c.1655C>T	XP_011520763.1:p.Pro552Leu
XM_011522458.3:c.1184C>T	XP_011520760.1:p.Pro395Leu
XM_011522461.3:c.1655C>T	XP_011520763.1:p.Pro552Leu
XM_017023172.1:c.1811C>T	XP_016878661.1:p.Pro604Leu
XM_017023173.1:c.1811C>T	XP_016878662.1:p.Pro604Leu
NM_001134407.3:c.1655C>T MANE Select	NP_001127879.1:p.Pro552Leu
NM_000833.5:c.1655C>T	NP_000824.1:p.Pro552Leu