Canonical Allele Identifier: CA7897047

Gene: GRIN2A

Linked Data

• ClinVar Variation Id: 1031668
• ClinVar RCV Id: RCV001333571
• dbSNP Id: rs775540481
• ExAC: 16:10274187 CCGCCGCCGCGCTCGG / C
• gnomAD v2: 16-10274187-CCGCCGCCGCGCTCGG-C
• gnomAD v4: 16-10180330-CCGCCGCCGCGCTCGG-C
• MyVariant Identifiers: chr16:g.10274188_10274202del (hg19) ; chr16:g.10180331_10180345del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.10180336_10180350del , CM000678.2:g.10180336_10180350del	GRCh38
NC_000016.9:g.10274193_10274207del , CM000678.1:g.10274193_10274207del	GRCh37
NC_000016.8:g.10181694_10181708del	NCBI36
NG_011812.1:g.7410_7424del
NG_011812.2:g.7410_7424del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000330684.4:c.67_81del MANE Select	ENSP00000332549.3:p.Pro23_Ala27del
ENST00000675189.1:n.551_565del
ENST00000675398.1:c.67_81del	ENSP00000502752.1:p.Pro23_Ala27del
ENST00000676032.1:n.500_514del
ENST00000330684.3:c.67_81del	ENSP00000332549.3:p.Pro23_Ala27del
ENST00000396573.6:c.67_81del	ENSP00000379818.2:p.Pro23_Ala27del
ENST00000562109.5:c.67_81del	ENSP00000454998.1:p.Pro23_Ala27del
ENST00000566665.1:n.468_482del
NM_000833.4:c.67_81del	NP_000824.1:p.Pro23_Ala27del
NM_001134407.2:c.67_81del	NP_001127879.1:p.Pro23_Ala27del
NM_001134408.2:c.67_81del	NP_001127880.1:p.Pro23_Ala27del
XM_011522461.1:c.67_81del	XP_011520763.1:p.Pro23_Ala27del
XM_011522461.3:c.67_81del	XP_011520763.1:p.Pro23_Ala27del
XM_017023172.1:c.223_237del	XP_016878661.1:p.Pro75_Ala79del
XM_017023173.1:c.223_237del	XP_016878662.1:p.Pro75_Ala79del
NM_001134407.3:c.67_81del MANE Select	NP_001127879.1:p.Pro23_Ala27del
NM_000833.5:c.67_81del	NP_000824.1:p.Pro23_Ala27del