Canonical Allele Identifier: CA493693197
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 464054
ClinVar RCV Id: RCV000551597
dbSNP Id: rs756576680
gnomAD v2: 16-9858524-G-A
gnomAD v4: 16-9764667-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.9764667G>A , CM000678.2:g.9764667G>A GRCh38
NC_000016.9:g.9858524G>A , CM000678.1:g.9858524G>A GRCh37
NC_000016.8:g.9766025G>A NCBI36
NG_011812.1:g.423088C>T
NG_011812.2:g.423088C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.2877C>T MANE Select ENSP00000332549.3:p.Asn959=
ENST00000535259.6:c.2406C>T ENSP00000441572.3:p.Asn802=
ENST00000636273.2:n.2470C>T
ENST00000674742.1:c.2406C>T ENSP00000502200.1:p.Asn802=
ENST00000675398.1:c.*247C>T ENSP00000502752.1:n.*247C>T
ENST00000330684.3:c.2877C>T ENSP00000332549.3:p.Asn959=
ENST00000396573.6:c.2877C>T ENSP00000379818.2:p.Asn959=
ENST00000396575.6:c.2466C>T ENSP00000379820.3:p.Asn822=
ENST00000461292.3:n.2516C>T
ENST00000535259.5:c.2466C>T ENSP00000441572.2:p.Asn822=
ENST00000562109.5:c.2877C>T ENSP00000454998.1:p.Asn959=
NM_000833.4:c.2877C>T NP_000824.1:p.Asn959=
NM_001134407.2:c.2877C>T NP_001127879.1:p.Asn959=
NM_001134408.2:c.2877C>T NP_001127880.1:p.Asn959=
XM_011522456.1:c.2718C>T XP_011520758.1:p.Asn906=
XM_011522457.1:c.2619C>T XP_011520759.1:p.Asn873=
XM_011522458.1:c.2406C>T XP_011520760.1:p.Asn802=
XM_011522459.1:c.2406C>T XP_011520761.1:p.Asn802=
XM_011522460.1:c.2406C>T XP_011520762.1:p.Asn802=
XM_011522461.1:c.2877C>T XP_011520763.1:p.Asn959=
XM_011522458.3:c.2406C>T XP_011520760.1:p.Asn802=
XM_011522461.3:c.2877C>T XP_011520763.1:p.Asn959=
XM_017023172.1:c.3033C>T XP_016878661.1:p.Asn1011=
XM_017023173.1:c.3033C>T XP_016878662.1:p.Asn1011=
NM_001134407.3:c.2877C>T MANE Select NP_001127879.1:p.Asn959=
NM_000833.5:c.2877C>T NP_000824.1:p.Asn959=