Linked Data
dbSNP Id:
rs142906174
ExAC:
22:19119490 A / C
gnomAD v2:
22-19119490-A-C
gnomAD v3:
22-19131977-A-C
gnomAD v4:
22-19131977-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19131977A>C , CM000684.2:g.19131977A>C | GRCh38 |
| NC_000022.10:g.19119490A>C , CM000684.1:g.19119490A>C | GRCh37 |
| NC_000022.9:g.17499490A>C | NCBI36 |
| NG_008320.1:g.17701T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252137.11:c.*2219T>G (ESS2) MANE Select | ENSP00000252137.6:n.*2219T>G | |
| ENST00000399635.4:c.578A>C (TSSK2) MANE Select | ENSP00000382544.2:p.Gln193Pro | |
| ENST00000252137.10:c.*2219T>G (ESS2) | ENSP00000252137.6:n.*2219T>G | |
| ENST00000399635.3:c.578A>C (TSSK2) | ENSP00000382544.2:p.Gln193Pro | |
| NM_022719.2:c.*2219T>G (ESS2) | NP_073210.1:n.*2219T>G | |
| NM_053006.4:c.578A>C (TSSK2) | NP_443732.3:p.Gln193Pro | |
| XM_005261282.3:c.*2219T>G (ESS2) | XP_005261339.1:n.*2219T>G | |
| XM_006724329.2:c.*2219T>G (ESS2) | XP_006724392.1:n.*2219T>G | |
| XM_006724330.2:c.*2219T>G (ESS2) | XP_006724393.1:n.*2219T>G | |
| XM_006724331.2:c.*2219T>G (ESS2) | XP_006724394.1:n.*2219T>G | |
| XR_937926.1:n.3608T>G (ESS2) | ||
| NR_134304.1:n.3764T>G (ESS2) | ||
| NM_022719.3:c.*2219T>G (ESS2) MANE Select | NP_073210.1:n.*2219T>G | |
| NM_053006.5:c.578A>C (TSSK2) MANE Select | NP_443732.3:p.Gln193Pro | |
| NR_134304.2:n.3738T>G (ESS2) |