Linked Data
ClinVar Variation Id:
2522259
ClinVar RCV Id:
RCV004295394
dbSNP Id:
rs140510864
ExAC:
22:19119570 G / A
gnomAD v2:
22-19119570-G-A
gnomAD v3:
22-19132057-G-A
gnomAD v4:
22-19132057-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19132057G>A , CM000684.2:g.19132057G>A | GRCh38 |
| NC_000022.10:g.19119570G>A , CM000684.1:g.19119570G>A | GRCh37 |
| NC_000022.9:g.17499570G>A | NCBI36 |
| NG_008320.1:g.17621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252137.11:c.*2139C>T (ESS2) MANE Select | ENSP00000252137.6:n.*2139C>T | |
| ENST00000399635.4:c.658G>A (TSSK2) MANE Select | ENSP00000382544.2:p.Asp220Asn | |
| ENST00000252137.10:c.*2139C>T (ESS2) | ENSP00000252137.6:n.*2139C>T | |
| ENST00000399635.3:c.658G>A (TSSK2) | ENSP00000382544.2:p.Asp220Asn | |
| NM_022719.2:c.*2139C>T (ESS2) | NP_073210.1:n.*2139C>T | |
| NM_053006.4:c.658G>A (TSSK2) | NP_443732.3:p.Asp220Asn | |
| XM_005261282.3:c.*2139C>T (ESS2) | XP_005261339.1:n.*2139C>T | |
| XM_006724329.2:c.*2139C>T (ESS2) | XP_006724392.1:n.*2139C>T | |
| XM_006724330.2:c.*2139C>T (ESS2) | XP_006724393.1:n.*2139C>T | |
| XM_006724331.2:c.*2139C>T (ESS2) | XP_006724394.1:n.*2139C>T | |
| XR_937926.1:n.3528C>T (ESS2) | ||
| NR_134304.1:n.3684C>T (ESS2) | ||
| NM_022719.3:c.*2139C>T (ESS2) MANE Select | NP_073210.1:n.*2139C>T | |
| NM_053006.5:c.658G>A (TSSK2) MANE Select | NP_443732.3:p.Asp220Asn | |
| NR_134304.2:n.3658C>T (ESS2) |