Canonical Allele Identifier: CA394705943

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2141126031
• COSMIC: COSM1285271
• MyVariant Identifiers: chr16:g.9857240G>T (hg19) ; chr16:g.9763383G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9763383G>T , CM000678.2:g.9763383G>T	GRCh38
NC_000016.9:g.9857240G>T , CM000678.1:g.9857240G>T	GRCh37
NC_000016.8:g.9764741G>T	NCBI36
NG_011812.1:g.424372C>A
NG_011812.2:g.424372C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.4161C>A MANE Select	ENSP00000332549.3:p.Tyr1387Ter
ENST00000535259.6:c.3347C>A	ENSP00000441572.3:p.Thr1116Lys
ENST00000636273.2:n.3411C>A
ENST00000674742.1:c.3690C>A	ENSP00000502200.1:p.Tyr1230Ter
ENST00000675398.1:c.*1531C>A	ENSP00000502752.1:n.*1531C>A
ENST00000330684.3:c.4161C>A	ENSP00000332549.3:p.Tyr1387Ter
ENST00000396573.6:c.4161C>A	ENSP00000379818.2:p.Tyr1387Ter
ENST00000396575.6:c.3750C>A	ENSP00000379820.3:p.Tyr1250Ter
ENST00000461292.3:n.3457C>A
ENST00000535259.5:c.3407C>A	ENSP00000441572.2:p.Thr1136Lys
ENST00000562109.5:c.3818C>A	ENSP00000454998.1:p.Thr1273Lys
NM_000833.4:c.4161C>A	NP_000824.1:p.Tyr1387Ter
NM_001134407.2:c.4161C>A	NP_001127879.1:p.Tyr1387Ter
NM_001134408.2:c.3818C>A	NP_001127880.1:p.Thr1273Lys
XM_011522456.1:c.4002C>A	XP_011520758.1:p.Tyr1334Ter
XM_011522457.1:c.3903C>A	XP_011520759.1:p.Tyr1301Ter
XM_011522458.1:c.3690C>A	XP_011520760.1:p.Tyr1230Ter
XM_011522459.1:c.3690C>A	XP_011520761.1:p.Tyr1230Ter
XM_011522460.1:c.3690C>A	XP_011520762.1:p.Tyr1230Ter
XM_011522461.1:c.3818C>A	XP_011520763.1:p.Thr1273Lys
XM_011522458.3:c.3690C>A	XP_011520760.1:p.Tyr1230Ter
XM_011522461.3:c.3818C>A	XP_011520763.1:p.Thr1273Lys
XM_017023172.1:c.4317C>A	XP_016878661.1:p.Tyr1439Ter
XM_017023173.1:c.3974C>A	XP_016878662.1:p.Thr1325Lys
NM_001134407.3:c.4161C>A MANE Select	NP_001127879.1:p.Tyr1387Ter
NM_000833.5:c.4161C>A	NP_000824.1:p.Tyr1387Ter