Linked Data
ClinVar Variation Id:
295704
dbSNP Id:
rs141936971
ExAC:
1:22150828 G / A
gnomAD v2:
1-22150828-G-A
gnomAD v3:
1-21824335-G-A
gnomAD v4:
1-21824335-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21824335G>A , CM000663.2:g.21824335G>A | GRCh38 |
| NC_000001.10:g.22150828G>A , CM000663.1:g.22150828G>A | GRCh37 |
| NC_000001.9:g.22023415G>A | NCBI36 |
| NG_016740.1:g.117923C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344642.7:c.*2120G>A (LDLRAD2) MANE Select | ENSP00000340988.2:n.*2120G>A | |
| ENST00000374695.8:c.12786C>T (HSPG2) MANE Select | ENSP00000363827.3:p.Leu4262= | |
| ENST00000344642.6:c.*2120G>A (LDLRAD2) | ENSP00000340988.2:n.*2120G>A | |
| ENST00000374695.7:c.12786C>T (HSPG2) | ENSP00000363827.3:p.Leu4262= | |
| ENST00000486901.1:n.2125C>T (HSPG2) | ||
| NM_001013693.2:c.*2120G>A (LDLRAD2) | NP_001013715.2:n.*2120G>A | |
| NM_001291860.1:c.12789C>T (HSPG2) | NP_001278789.1:p.Leu4263= | |
| NM_005529.6:c.12786C>T (HSPG2) | NP_005520.4:p.Leu4262= | |
| XM_006710594.2:c.13350C>T (HSPG2) | XP_006710657.1:p.Leu4450= | |
| XM_006710595.2:c.13302C>T (HSPG2) | XP_006710658.1:p.Leu4434= | |
| XM_006710596.2:c.13281C>T (HSPG2) | XP_006710659.1:p.Leu4427= | |
| XM_006710597.2:c.12804C>T (HSPG2) | XP_006710660.1:p.Leu4268= | |
| XM_011541317.1:c.13353C>T (HSPG2) | XP_011539619.1:p.Leu4451= | |
| XM_011541318.1:c.13335C>T (HSPG2) | XP_011539620.1:p.Leu4445= | |
| XM_011541319.1:c.13230C>T (HSPG2) | XP_011539621.1:p.Leu4410= | |
| XM_011541320.1:c.13074C>T (HSPG2) | XP_011539622.1:p.Leu4358= | |
| XM_011541321.1:c.12858C>T (HSPG2) | XP_011539623.1:p.Leu4286= | |
| XM_011541318.2:c.13335C>T (HSPG2) | XP_011539620.1:p.Leu4445= | |
| XM_017001120.1:c.12981C>T (HSPG2) | XP_016856609.1:p.Leu4327= | |
| XM_017001121.1:c.12930C>T (HSPG2) | XP_016856610.1:p.Leu4310= | |
| XM_017001122.1:c.12927C>T (HSPG2) | XP_016856611.1:p.Leu4309= | |
| NM_005529.7:c.12786C>T (HSPG2) MANE Select | NP_005520.4:p.Leu4262= | |
| NM_001013693.3:c.*2120G>A (LDLRAD2) MANE Select | NP_001013715.2:n.*2120G>A | |
| NM_001291860.2:c.12789C>T (HSPG2) | NP_001278789.1:p.Leu4263= |