Linked Data
dbSNP Id:
rs1468480493
gnomAD v2:
11-72373562-T-C
gnomAD v3:
11-72662518-T-C
gnomAD v4:
11-72662518-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72662518T>C , CM000673.2:g.72662518T>C | GRCh38 |
| NC_000011.9:g.72373562T>C , CM000673.1:g.72373562T>C | GRCh37 |
| NC_000011.8:g.72051210T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334456.10:c.71+11619A>G (PDE2A) MANE Select | ENSP00000334910.5:n.71+11619A>G | |
| ENST00000334456.9:c.71+11619A>G (PDE2A) | ENSP00000334910.5:n.71+11619A>G | |
| ENST00000418754.6:c.71+11619A>G (PDE2A) | ENSP00000410310.2:n.71+11619A>G | |
| ENST00000535701.1:c.71+11619A>G (PDE2A) | ENSP00000439302.1:n.71+11619A>G | |
| ENST00000540345.5:c.44+5780A>G (PDE2A) | ENSP00000446399.1:n.44+5780A>G | |
| ENST00000540380.5:n.455+11619A>G (PDE2A) | ||
| ENST00000542969.2:c.-55+11619A>G (PDE2A) | ENSP00000443232.1:n.-55+11619A>G | |
| ENST00000546038.1:c.*80+5780A>G (PDE2A) | ENSP00000438295.1:n.*80+5780A>G | |
| NM_001146209.2:c.44+5780A>G (PDE2A) | NP_001139681.1:n.44+5780A>G | |
| NM_002599.4:c.71+11619A>G (PDE2A) | NP_002590.1:n.71+11619A>G | |
| XR_950288.1:n.508+1673T>C (PDE2A-AS1) | ||
| XR_001748293.1:n.750+1673T>C (PDE2A-AS1) | ||
| XR_950288.3:n.726+1673T>C (PDE2A-AS1) | ||
| NM_002599.5:c.71+11619A>G (PDE2A) MANE Select | NP_002590.1:n.71+11619A>G | |
| NM_001146209.3:c.44+5780A>G (PDE2A) | NP_001139681.1:n.44+5780A>G |