gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50365184C>T , CM000665.2:g.50365184C>T | GRCh38 |
| NC_000003.11:g.50402615C>T , CM000665.1:g.50402615C>T | GRCh37 |
| NC_000003.10:g.50377619C>T | NCBI36 |
| NG_034070.1:g.144061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424201.7:c.3099G>A (CACNA2D2) MANE Select | ENSP00000390329.2:p.Arg1033= | |
| ENST00000266039.7:c.3099G>A (CACNA2D2) | ENSP00000266039.3:p.Arg1033= | |
| ENST00000360963.7:c.2892G>A (CACNA2D2) | ENSP00000354228.3:p.Arg964= | |
| ENST00000423994.6:c.3123G>A (CACNA2D2) | ENSP00000407393.2:p.Arg1041= | |
| ENST00000424201.6:c.3099G>A (CACNA2D2) | ENSP00000390329.2:p.Arg1033= | |
| ENST00000429770.5:c.3102G>A (CACNA2D2) | ENSP00000404631.1:p.Arg1034= | |
| ENST00000479441.1:c.3120G>A (CACNA2D2) | ENSP00000418081.1:p.Arg1040= | |
| ENST00000483620.1:n.278G>A (CACNA2D2) | ||
| ENST00000606589.1:c.128-1113C>T | ENSP00000476225.1:n.128-1113C>T | |
| NM_001005505.2:c.3099G>A (CACNA2D2) | NP_001005505.1:p.Arg1033= | |
| NM_001174051.2:c.3120G>A (CACNA2D2) | NP_001167522.1:p.Arg1040= | |
| NM_001291101.1:c.2892G>A (CACNA2D2) | NP_001278030.1:p.Arg964= | |
| NM_006030.3:c.3099G>A (CACNA2D2) | NP_006021.2:p.Arg1033= | |
| NR_111912.1:n.443-1113C>T (CYB561D2) | ||
| XM_005265581.3:c.3102G>A (CACNA2D2) | XP_005265638.1:p.Arg1034= | |
| XM_011534242.1:c.3123G>A (CACNA2D2) | XP_011532544.1:p.Arg1041= | |
| XM_011534243.1:c.3123G>A (CACNA2D2) | XP_011532545.1:p.Arg1041= | |
| XM_011534244.1:c.3102G>A (CACNA2D2) | XP_011532546.1:p.Arg1034= | |
| XM_005265581.4:c.3102G>A (CACNA2D2) | XP_005265638.1:p.Arg1034= | |
| XM_011534243.2:c.3123G>A (CACNA2D2) | XP_011532545.1:p.Arg1041= | |
| NM_001005505.3:c.3099G>A (CACNA2D2) | NP_001005505.1:p.Arg1033= | |
| NM_001174051.3:c.3120G>A (CACNA2D2) | NP_001167522.1:p.Arg1040= | |
| NM_006030.4:c.3099G>A (CACNA2D2) MANE Select | NP_006021.2:p.Arg1033= | |
| NR_111912.2:n.276-1113C>T (CYB561D2) |