Linked Data
dbSNP Id:
rs766637203
ExAC:
22:19119910 T / A
gnomAD v2:
22-19119910-T-A
gnomAD v3:
22-19132397-T-A
gnomAD v4:
22-19132397-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19132397T>A , CM000684.2:g.19132397T>A | GRCh38 |
| NC_000022.10:g.19119910T>A , CM000684.1:g.19119910T>A | GRCh37 |
| NC_000022.9:g.17499910T>A | NCBI36 |
| NG_008320.1:g.17281A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252137.11:c.*1799A>T (ESS2) MANE Select | ENSP00000252137.6:n.*1799A>T | |
| ENST00000399635.4:c.998T>A (TSSK2) MANE Select | ENSP00000382544.2:p.Met333Lys | |
| ENST00000252137.10:c.*1799A>T (ESS2) | ENSP00000252137.6:n.*1799A>T | |
| ENST00000399635.3:c.998T>A (TSSK2) | ENSP00000382544.2:p.Met333Lys | |
| NM_022719.2:c.*1799A>T (ESS2) | NP_073210.1:n.*1799A>T | |
| NM_053006.4:c.998T>A (TSSK2) | NP_443732.3:p.Met333Lys | |
| XM_005261282.3:c.*1799A>T (ESS2) | XP_005261339.1:n.*1799A>T | |
| XM_006724329.2:c.*1799A>T (ESS2) | XP_006724392.1:n.*1799A>T | |
| XM_006724330.2:c.*1799A>T (ESS2) | XP_006724393.1:n.*1799A>T | |
| XM_006724331.2:c.*1799A>T (ESS2) | XP_006724394.1:n.*1799A>T | |
| XR_937926.1:n.3188A>T (ESS2) | ||
| NR_134304.1:n.3344A>T (ESS2) | ||
| NM_022719.3:c.*1799A>T (ESS2) MANE Select | NP_073210.1:n.*1799A>T | |
| NM_053006.5:c.998T>A (TSSK2) MANE Select | NP_443732.3:p.Met333Lys | |
| NR_134304.2:n.3318A>T (ESS2) |