Revel Score:
ENST00000423994
0.063
ENST00000429770
0.063
ENST00000266039
0.063
ENST00000360963
0.063
ENST00000435965
0.063
ENST00000395083
0.063
ENST00000424201 (MANE Select)
0.063
ENST00000479441
0.063
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00154445 (SAS)
Genomes Max Group AF
0.00254608 (AMR)
Exomes Max Group AF
0.00157673 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50365459G>A , CM000665.2:g.50365459G>A | GRCh38 |
| NC_000003.11:g.50402890G>A , CM000665.1:g.50402890G>A | GRCh37 |
| NC_000003.10:g.50377894G>A | NCBI36 |
| NG_034070.1:g.143786C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424201.7:c.2995C>T (CACNA2D2) MANE Select | ENSP00000390329.2:p.Pro999Ser | |
| ENST00000266039.7:c.2995C>T (CACNA2D2) | ENSP00000266039.3:p.Pro999Ser | |
| ENST00000360963.7:c.2788C>T (CACNA2D2) | ENSP00000354228.3:p.Pro930Ser | |
| ENST00000423994.6:c.3019C>T (CACNA2D2) | ENSP00000407393.2:p.Pro1007Ser | |
| ENST00000424201.6:c.2995C>T (CACNA2D2) | ENSP00000390329.2:p.Pro999Ser | |
| ENST00000429770.5:c.2998C>T (CACNA2D2) | ENSP00000404631.1:p.Pro1000Ser | |
| ENST00000479441.1:c.3016C>T (CACNA2D2) | ENSP00000418081.1:p.Pro1006Ser | |
| ENST00000483620.1:n.174C>T (CACNA2D2) | ||
| ENST00000606589.1:c.128-838G>A | ENSP00000476225.1:n.128-838G>A | |
| NM_001005505.2:c.2995C>T (CACNA2D2) | NP_001005505.1:p.Pro999Ser | |
| NM_001174051.2:c.3016C>T (CACNA2D2) | NP_001167522.1:p.Pro1006Ser | |
| NM_001291101.1:c.2788C>T (CACNA2D2) | NP_001278030.1:p.Pro930Ser | |
| NM_006030.3:c.2995C>T (CACNA2D2) | NP_006021.2:p.Pro999Ser | |
| NR_111912.1:n.443-838G>A (CYB561D2) | ||
| NR_111913.1:n.126G>A (CYB561D2) | ||
| NR_111914.1:n.126G>A (CYB561D2) | ||
| XM_005265581.3:c.2998C>T (CACNA2D2) | XP_005265638.1:p.Pro1000Ser | |
| XM_011534242.1:c.3019C>T (CACNA2D2) | XP_011532544.1:p.Pro1007Ser | |
| XM_011534243.1:c.3019C>T (CACNA2D2) | XP_011532545.1:p.Pro1007Ser | |
| XM_011534244.1:c.2998C>T (CACNA2D2) | XP_011532546.1:p.Pro1000Ser | |
| XM_005265581.4:c.2998C>T (CACNA2D2) | XP_005265638.1:p.Pro1000Ser | |
| XM_011534243.2:c.3019C>T (CACNA2D2) | XP_011532545.1:p.Pro1007Ser | |
| NM_001005505.3:c.2995C>T (CACNA2D2) | NP_001005505.1:p.Pro999Ser | |
| NM_001174051.3:c.3016C>T (CACNA2D2) | NP_001167522.1:p.Pro1006Ser | |
| NM_006030.4:c.2995C>T (CACNA2D2) MANE Select | NP_006021.2:p.Pro999Ser | |
| NR_111912.2:n.276-838G>A (CYB561D2) | ||
| NR_111913.2:n.97G>A (CYB561D2) | ||
| NR_111914.2:n.97G>A (CYB561D2) |