Canonical Allele Identifier: CA7897044

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 423684
• ClinVar RCV Id: RCV000484425 ; RCV001865480
• dbSNP Id: rs767188122
• ExAC: 16:10274184 TCTC / T
• gnomAD v2: 16-10274184-TCTC-T
• gnomAD v3: 16-10180327-TCTC-T
• gnomAD v4: 16-10180327-TCTC-T
• MyVariant Identifiers: chr16:g.10274185_10274187del (hg19) ; chr16:g.10180328_10180330del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180329_10180331del , CM000678.2:g.10180329_10180331del	GRCh38
NC_000016.9:g.10274186_10274188del , CM000678.1:g.10274186_10274188del	GRCh37
NC_000016.8:g.10181687_10181689del	NCBI36
NG_011812.1:g.7425_7427del
NG_011812.2:g.7425_7427del

Transcript Alleles

HGVS	Amino-acid change
ENST00000330684.4:c.82_84del MANE Select	ENSP00000332549.3:p.Glu28del
ENST00000675189.1:n.566_568del
ENST00000675398.1:c.82_84del	ENSP00000502752.1:p.Glu28del
ENST00000676032.1:n.515_517del
ENST00000330684.3:c.82_84del	ENSP00000332549.3:p.Glu28del
ENST00000396573.6:c.82_84del	ENSP00000379818.2:p.Glu28del
ENST00000562109.5:c.82_84del	ENSP00000454998.1:p.Glu28del
ENST00000566665.1:n.483_485del
NM_000833.4:c.82_84del	NP_000824.1:p.Glu28del
NM_001134407.2:c.82_84del	NP_001127879.1:p.Glu28del
NM_001134408.2:c.82_84del	NP_001127880.1:p.Glu28del
XM_011522461.1:c.82_84del	XP_011520763.1:p.Glu28del
XM_011522461.3:c.82_84del	XP_011520763.1:p.Glu28del
XM_017023172.1:c.238_240del	XP_016878661.1:p.Glu80del
XM_017023173.1:c.238_240del	XP_016878662.1:p.Glu80del
NM_001134407.3:c.82_84del MANE Select	NP_001127879.1:p.Glu28del
NM_000833.5:c.82_84del	NP_000824.1:p.Glu28del