COSMIC:
COSM3750886 (not active)
Revel Score:
ENST00000374695 (MANE Select)
0.124
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27977755 (SAS)
Genomes Max Group AF
0.28276264 (SAS)
Exomes Max Group AF
0.27898234 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21823627C>T , CM000663.2:g.21823627C>T | GRCh38 |
| NC_000001.10:g.22150120C>T , CM000663.1:g.22150120C>T | GRCh37 |
| NC_000001.9:g.22022707C>T | NCBI36 |
| NG_016740.1:g.118631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*1412C>T (LDLRAD2) MANE Select | ENSP00000340988.2:n.*1412C>T | |
| ENST00000374695.8:c.12992G>A (HSPG2) MANE Select | ENSP00000363827.3:p.Ser4331Asn | |
| ENST00000344642.6:c.*1412C>T (LDLRAD2) | ENSP00000340988.2:n.*1412C>T | |
| ENST00000374695.7:c.12992G>A (HSPG2) | ENSP00000363827.3:p.Ser4331Asn | |
| ENST00000481644.1:n.640G>A (HSPG2) | ||
| ENST00000486901.1:n.2331G>A (HSPG2) | ||
| ENST00000543870.1:c.*219-283C>T (LDLRAD2) | ENSP00000444097.1:n.*219-283C>T | |
| NM_001013693.2:c.*1412C>T (LDLRAD2) | NP_001013715.2:n.*1412C>T | |
| NM_001291860.1:c.12995G>A (HSPG2) | NP_001278789.1:p.Ser4332Asn | |
| NM_005529.6:c.12992G>A (HSPG2) | NP_005520.4:p.Ser4331Asn | |
| XM_006710594.2:c.13556G>A (HSPG2) | XP_006710657.1:p.Ser4519Asn | |
| XM_006710595.2:c.13508G>A (HSPG2) | XP_006710658.1:p.Ser4503Asn | |
| XM_006710596.2:c.13487G>A (HSPG2) | XP_006710659.1:p.Ser4496Asn | |
| XM_006710597.2:c.13010G>A (HSPG2) | XP_006710660.1:p.Ser4337Asn | |
| XM_011541317.1:c.13559G>A (HSPG2) | XP_011539619.1:p.Ser4520Asn | |
| XM_011541318.1:c.13541G>A (HSPG2) | XP_011539620.1:p.Ser4514Asn | |
| XM_011541319.1:c.13436G>A (HSPG2) | XP_011539621.1:p.Ser4479Asn | |
| XM_011541320.1:c.13280G>A (HSPG2) | XP_011539622.1:p.Ser4427Asn | |
| XM_011541321.1:c.13064G>A (HSPG2) | XP_011539623.1:p.Ser4355Asn | |
| XM_011541318.2:c.13541G>A (HSPG2) | XP_011539620.1:p.Ser4514Asn | |
| XM_017001120.1:c.13187G>A (HSPG2) | XP_016856609.1:p.Ser4396Asn | |
| XM_017001121.1:c.13136G>A (HSPG2) | XP_016856610.1:p.Ser4379Asn | |
| XM_017001122.1:c.13133G>A (HSPG2) | XP_016856611.1:p.Ser4378Asn | |
| NM_005529.7:c.12992G>A (HSPG2) MANE Select | NP_005520.4:p.Ser4331Asn | |
| NM_001013693.3:c.*1412C>T (LDLRAD2) MANE Select | NP_001013715.2:n.*1412C>T | |
| NM_001291860.2:c.12995G>A (HSPG2) | NP_001278789.1:p.Ser4332Asn |