Canonical Allele Identifier: CA493693749

Gene: GRIN2A

Linked Data

• dbSNP Id: rs2142389936
• gnomAD v4: 16-10180214-G-A
• COSMIC: COSM4688762
• MyVariant Identifiers: chr16:g.10274071G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180214G>A , CM000678.2:g.10180214G>A	GRCh38
NC_000016.9:g.10274071G>A , CM000678.1:g.10274071G>A	GRCh37
NC_000016.8:g.10181572G>A	NCBI36
NG_011812.1:g.7541C>T
NG_011812.2:g.7541C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.198C>T MANE Select	ENSP00000332549.3:p.Asp66=
ENST00000675189.1:n.682C>T
ENST00000675398.1:c.198C>T	ENSP00000502752.1:p.Asp66=
ENST00000676032.1:n.631C>T
ENST00000330684.3:c.198C>T	ENSP00000332549.3:p.Asp66=
ENST00000396573.6:c.198C>T	ENSP00000379818.2:p.Asp66=
ENST00000562109.5:c.198C>T	ENSP00000454998.1:p.Asp66=
ENST00000566665.1:n.599C>T
NM_000833.4:c.198C>T	NP_000824.1:p.Asp66=
NM_001134407.2:c.198C>T	NP_001127879.1:p.Asp66=
NM_001134408.2:c.198C>T	NP_001127880.1:p.Asp66=
XM_011522461.1:c.198C>T	XP_011520763.1:p.Asp66=
XM_011522461.3:c.198C>T	XP_011520763.1:p.Asp66=
XM_017023172.1:c.354C>T	XP_016878661.1:p.Asp118=
XM_017023173.1:c.354C>T	XP_016878662.1:p.Asp118=
NM_001134407.3:c.198C>T MANE Select	NP_001127879.1:p.Asp66=
NM_000833.5:c.198C>T	NP_000824.1:p.Asp66=