Canonical Allele Identifier: CA394798895

Gene: GRIN2A

Linked Data

• dbSNP Id: rs1342755805
• gnomAD v2: 16-10032216-C-T
• gnomAD v3: 16-9938359-C-T
• gnomAD v4: 16-9938359-C-T
• MyVariant Identifiers: chr16:g.10032216C>T (hg19) ; chr16:g.9938359C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.9938359C>T , CM000678.2:g.9938359C>T	GRCh38
NC_000016.9:g.10032216C>T , CM000678.1:g.10032216C>T	GRCh37
NC_000016.8:g.9939717C>T	NCBI36
NG_011812.1:g.249396G>A
NG_011812.2:g.249396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.607G>A MANE Select	ENSP00000332549.3:p.Val203Met
ENST00000535259.6:c.136G>A	ENSP00000441572.3:p.Val46Met
ENST00000636273.2:n.200G>A
ENST00000637393.1:c.199G>A	ENSP00000490232.1:p.Val67Met
ENST00000674742.1:c.136G>A	ENSP00000502200.1:p.Val46Met
ENST00000675189.1:n.1091G>A
ENST00000675398.1:c.607G>A	ENSP00000502752.1:p.Val203Met
ENST00000330684.3:c.607G>A	ENSP00000332549.3:p.Val203Met
ENST00000396573.6:c.607G>A	ENSP00000379818.2:p.Val203Met
ENST00000396575.6:c.196G>A	ENSP00000379820.3:p.Val66Met
ENST00000461292.3:n.246G>A
ENST00000535259.5:c.196G>A	ENSP00000441572.2:p.Val66Met
ENST00000562109.5:c.607G>A	ENSP00000454998.1:p.Val203Met
ENST00000566670.2:n.449G>A
ENST00000566683.1:n.241-47259G>A
ENST00000568247.3:n.499G>A
NM_000833.4:c.607G>A	NP_000824.1:p.Val203Met
NM_001134407.2:c.607G>A	NP_001127879.1:p.Val203Met
NM_001134408.2:c.607G>A	NP_001127880.1:p.Val203Met
XM_011522456.1:c.448G>A	XP_011520758.1:p.Val150Met
XM_011522457.1:c.349G>A	XP_011520759.1:p.Val117Met
XM_011522458.1:c.136G>A	XP_011520760.1:p.Val46Met
XM_011522459.1:c.136G>A	XP_011520761.1:p.Val46Met
XM_011522460.1:c.136G>A	XP_011520762.1:p.Val46Met
XM_011522461.1:c.607G>A	XP_011520763.1:p.Val203Met
XM_011522458.3:c.136G>A	XP_011520760.1:p.Val46Met
XM_011522461.3:c.607G>A	XP_011520763.1:p.Val203Met
XM_017023172.1:c.763G>A	XP_016878661.1:p.Val255Met
XM_017023173.1:c.763G>A	XP_016878662.1:p.Val255Met
NM_001134407.3:c.607G>A MANE Select	NP_001127879.1:p.Val203Met
NM_000833.5:c.607G>A	NP_000824.1:p.Val203Met