Linked Data
ClinVar Variation Id:
461320
dbSNP Id:
rs147278705
ExAC:
3:50402159 G / A
gnomAD v2:
3-50402159-G-A
gnomAD v3:
3-50364728-G-A
gnomAD v4:
3-50364728-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50364728G>A , CM000665.2:g.50364728G>A | GRCh38 |
| NC_000003.11:g.50402159G>A , CM000665.1:g.50402159G>A | GRCh37 |
| NC_000003.10:g.50377163G>A | NCBI36 |
| NG_034070.1:g.144517C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424201.7:c.3370C>T (CACNA2D2) MANE Select | ENSP00000390329.2:p.Leu1124Phe | |
| ENST00000266039.7:c.3376C>T (CACNA2D2) | ENSP00000266039.3:p.Leu1126Phe | |
| ENST00000360963.7:c.3169C>T (CACNA2D2) | ENSP00000354228.3:p.Leu1057Phe | |
| ENST00000423994.6:c.3400C>T (CACNA2D2) | ENSP00000407393.2:p.Leu1134Phe | |
| ENST00000424201.6:c.3370C>T (CACNA2D2) | ENSP00000390329.2:p.Leu1124Phe | |
| ENST00000429770.5:c.3373C>T (CACNA2D2) | ENSP00000404631.1:p.Leu1125Phe | |
| ENST00000479441.1:c.3391C>T (CACNA2D2) | ENSP00000418081.1:p.Leu1131Phe | |
| ENST00000483620.1:n.653C>T (CACNA2D2) | ||
| ENST00000606589.1:c.128-1569G>A | ENSP00000476225.1:n.128-1569G>A | |
| NM_001005505.2:c.3376C>T (CACNA2D2) | NP_001005505.1:p.Leu1126Phe | |
| NM_001174051.2:c.3391C>T (CACNA2D2) | NP_001167522.1:p.Leu1131Phe | |
| NM_001291101.1:c.3169C>T (CACNA2D2) | NP_001278030.1:p.Leu1057Phe | |
| NM_006030.3:c.3370C>T (CACNA2D2) | NP_006021.2:p.Leu1124Phe | |
| NR_111912.1:n.443-1569G>A (CYB561D2) | ||
| XM_005265581.3:c.3373C>T (CACNA2D2) | XP_005265638.1:p.Leu1125Phe | |
| XM_011534242.1:c.3400C>T (CACNA2D2) | XP_011532544.1:p.Leu1134Phe | |
| XM_011534243.1:c.3394C>T (CACNA2D2) | XP_011532545.1:p.Leu1132Phe | |
| XM_011534244.1:c.3379C>T (CACNA2D2) | XP_011532546.1:p.Leu1127Phe | |
| XM_005265581.4:c.3373C>T (CACNA2D2) | XP_005265638.1:p.Leu1125Phe | |
| XM_011534243.2:c.3394C>T (CACNA2D2) | XP_011532545.1:p.Leu1132Phe | |
| NM_001005505.3:c.3376C>T (CACNA2D2) | NP_001005505.1:p.Leu1126Phe | |
| NM_001174051.3:c.3391C>T (CACNA2D2) | NP_001167522.1:p.Leu1131Phe | |
| NM_006030.4:c.3370C>T (CACNA2D2) MANE Select | NP_006021.2:p.Leu1124Phe | |
| NR_111912.2:n.276-1569G>A (CYB561D2) |