Canonical Allele Identifier: CA394715200

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2142387965
• COSMIC: COSM5749563
• MyVariant Identifiers: chr16:g.10273917A>G (hg19) ; chr16:g.10180060A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180060A>G , CM000678.2:g.10180060A>G	GRCh38
NC_000016.9:g.10273917A>G , CM000678.1:g.10273917A>G	GRCh37
NC_000016.8:g.10181418A>G	NCBI36
NG_011812.1:g.7695T>C
NG_011812.2:g.7695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.352T>C MANE Select	ENSP00000332549.3:p.Ser118Pro
ENST00000637334.1:n.31T>C
ENST00000675189.1:n.836T>C
ENST00000675398.1:c.352T>C	ENSP00000502752.1:p.Ser118Pro
ENST00000676032.1:n.785T>C
ENST00000330684.3:c.352T>C	ENSP00000332549.3:p.Ser118Pro
ENST00000396573.6:c.352T>C	ENSP00000379818.2:p.Ser118Pro
ENST00000562109.5:c.352T>C	ENSP00000454998.1:p.Ser118Pro
ENST00000566665.1:n.753T>C
NM_000833.4:c.352T>C	NP_000824.1:p.Ser118Pro
NM_001134407.2:c.352T>C	NP_001127879.1:p.Ser118Pro
NM_001134408.2:c.352T>C	NP_001127880.1:p.Ser118Pro
XM_011522461.1:c.352T>C	XP_011520763.1:p.Ser118Pro
XM_011522461.3:c.352T>C	XP_011520763.1:p.Ser118Pro
XM_017023172.1:c.508T>C	XP_016878661.1:p.Ser170Pro
XM_017023173.1:c.508T>C	XP_016878662.1:p.Ser170Pro
NM_001134407.3:c.352T>C MANE Select	NP_001127879.1:p.Ser118Pro
NM_000833.5:c.352T>C	NP_000824.1:p.Ser118Pro