Canonical Allele Identifier: CA277615495
Gene: GRIN2A HGNC NCBI

Linked Data

ClinVar Variation Id: 833834
ClinVar RCV Id: RCV001034341
dbSNP Id: rs77288930

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.10180015T>C , CM000678.2:g.10180015T>C GRCh38
NC_000016.9:g.10273872T>C , CM000678.1:g.10273872T>C GRCh37
NC_000016.8:g.10181373T>C NCBI36
NG_011812.1:g.7740A>G
NG_011812.2:g.7740A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000330684.4:c.397A>G MANE Select ENSP00000332549.3:p.Met133Val
ENST00000637334.1:n.76A>G
ENST00000675189.1:n.881A>G
ENST00000675398.1:c.397A>G ENSP00000502752.1:p.Met133Val
ENST00000676032.1:n.830A>G
ENST00000330684.3:c.397A>G ENSP00000332549.3:p.Met133Val
ENST00000396573.6:c.397A>G ENSP00000379818.2:p.Met133Val
ENST00000562109.5:c.397A>G ENSP00000454998.1:p.Met133Val
ENST00000566665.1:n.798A>G
NM_000833.4:c.397A>G NP_000824.1:p.Met133Val
NM_001134407.2:c.397A>G NP_001127879.1:p.Met133Val
NM_001134408.2:c.397A>G NP_001127880.1:p.Met133Val
XM_011522461.1:c.397A>G XP_011520763.1:p.Met133Val
XM_011522461.3:c.397A>G XP_011520763.1:p.Met133Val
XM_017023172.1:c.553A>G XP_016878661.1:p.Met185Val
XM_017023173.1:c.553A>G XP_016878662.1:p.Met185Val
NM_001134407.3:c.397A>G MANE Select NP_001127879.1:p.Met133Val
NM_000833.5:c.397A>G NP_000824.1:p.Met133Val