Canonical Allele Identifier: CA7896998

Gene: GRIN2A

Linked Data

• dbSNP Id: rs376125239
• ExAC: 16:10273905 C / G
• gnomAD v2: 16-10273905-C-G
• MyVariant Identifiers: chr16:g.10273905C>G (hg19) ; chr16:g.10180048C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180048C>G , CM000678.2:g.10180048C>G	GRCh38
NC_000016.9:g.10273905C>G , CM000678.1:g.10273905C>G	GRCh37
NC_000016.8:g.10181406C>G	NCBI36
NG_011812.1:g.7707G>C
NG_011812.2:g.7707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.364G>C MANE Select	ENSP00000332549.3:p.Val122Leu
ENST00000637334.1:n.43G>C
ENST00000675189.1:n.848G>C
ENST00000675398.1:c.364G>C	ENSP00000502752.1:p.Val122Leu
ENST00000676032.1:n.797G>C
ENST00000330684.3:c.364G>C	ENSP00000332549.3:p.Val122Leu
ENST00000396573.6:c.364G>C	ENSP00000379818.2:p.Val122Leu
ENST00000562109.5:c.364G>C	ENSP00000454998.1:p.Val122Leu
ENST00000566665.1:n.765G>C
NM_000833.4:c.364G>C	NP_000824.1:p.Val122Leu
NM_001134407.2:c.364G>C	NP_001127879.1:p.Val122Leu
NM_001134408.2:c.364G>C	NP_001127880.1:p.Val122Leu
XM_011522461.1:c.364G>C	XP_011520763.1:p.Val122Leu
XM_011522461.3:c.364G>C	XP_011520763.1:p.Val122Leu
XM_017023172.1:c.520G>C	XP_016878661.1:p.Val174Leu
XM_017023173.1:c.520G>C	XP_016878662.1:p.Val174Leu
NM_001134407.3:c.364G>C MANE Select	NP_001127879.1:p.Val122Leu
NM_000833.5:c.364G>C	NP_000824.1:p.Val122Leu