Canonical Allele Identifier: CA394798462

Gene: GRIN2A

Linked Data

• COSMIC: COSM6287488
• MyVariant Identifiers: chr16:g.10032018G>T (hg19) ; chr16:g.9938161G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938161G>T , CM000678.2:g.9938161G>T	GRCh38
NC_000016.9:g.10032018G>T , CM000678.1:g.10032018G>T	GRCh37
NC_000016.8:g.9939519G>T	NCBI36
NG_011812.1:g.249594C>A
NG_011812.2:g.249594C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.805C>A MANE Select	ENSP00000332549.3:p.Pro269Thr
ENST00000535259.6:c.334C>A	ENSP00000441572.3:p.Pro112Thr
ENST00000636273.2:n.398C>A
ENST00000637393.1:c.397C>A	ENSP00000490232.1:p.Pro133Thr
ENST00000674742.1:c.334C>A	ENSP00000502200.1:p.Pro112Thr
ENST00000675189.1:n.1289C>A
ENST00000675398.1:c.805C>A	ENSP00000502752.1:p.Pro269Thr
ENST00000330684.3:c.805C>A	ENSP00000332549.3:p.Pro269Thr
ENST00000396573.6:c.805C>A	ENSP00000379818.2:p.Pro269Thr
ENST00000396575.6:c.394C>A	ENSP00000379820.3:p.Pro132Thr
ENST00000461292.3:n.444C>A
ENST00000535259.5:c.394C>A	ENSP00000441572.2:p.Pro132Thr
ENST00000562109.5:c.805C>A	ENSP00000454998.1:p.Pro269Thr
ENST00000566670.2:n.647C>A
ENST00000566683.1:n.241-47061C>A
ENST00000568247.3:n.697C>A
NM_000833.4:c.805C>A	NP_000824.1:p.Pro269Thr
NM_001134407.2:c.805C>A	NP_001127879.1:p.Pro269Thr
NM_001134408.2:c.805C>A	NP_001127880.1:p.Pro269Thr
XM_011522456.1:c.646C>A	XP_011520758.1:p.Pro216Thr
XM_011522457.1:c.547C>A	XP_011520759.1:p.Pro183Thr
XM_011522458.1:c.334C>A	XP_011520760.1:p.Pro112Thr
XM_011522459.1:c.334C>A	XP_011520761.1:p.Pro112Thr
XM_011522460.1:c.334C>A	XP_011520762.1:p.Pro112Thr
XM_011522461.1:c.805C>A	XP_011520763.1:p.Pro269Thr
XM_011522458.3:c.334C>A	XP_011520760.1:p.Pro112Thr
XM_011522461.3:c.805C>A	XP_011520763.1:p.Pro269Thr
XM_017023172.1:c.961C>A	XP_016878661.1:p.Pro321Thr
XM_017023173.1:c.961C>A	XP_016878662.1:p.Pro321Thr
NM_001134407.3:c.805C>A MANE Select	NP_001127879.1:p.Pro269Thr
NM_000833.5:c.805C>A	NP_000824.1:p.Pro269Thr