Linked Data
ClinVar Variation Id:
2242597
ClinVar RCV Id:
RCV004101760
dbSNP Id:
rs151069324
ExAC:
22:19119522 G / A
gnomAD v2:
22-19119522-G-A
gnomAD v3:
22-19132009-G-A
gnomAD v4:
22-19132009-G-A
COSMIC:
COSM1032005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19132009G>A , CM000684.2:g.19132009G>A | GRCh38 |
| NC_000022.10:g.19119522G>A , CM000684.1:g.19119522G>A | GRCh37 |
| NC_000022.9:g.17499522G>A | NCBI36 |
| NG_008320.1:g.17669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252137.11:c.*2187C>T (ESS2) MANE Select | ENSP00000252137.6:n.*2187C>T | |
| ENST00000399635.4:c.610G>A (TSSK2) MANE Select | ENSP00000382544.2:p.Val204Met | |
| ENST00000252137.10:c.*2187C>T (ESS2) | ENSP00000252137.6:n.*2187C>T | |
| ENST00000399635.3:c.610G>A (TSSK2) | ENSP00000382544.2:p.Val204Met | |
| NM_022719.2:c.*2187C>T (ESS2) | NP_073210.1:n.*2187C>T | |
| NM_053006.4:c.610G>A (TSSK2) | NP_443732.3:p.Val204Met | |
| XM_005261282.3:c.*2187C>T (ESS2) | XP_005261339.1:n.*2187C>T | |
| XM_006724329.2:c.*2187C>T (ESS2) | XP_006724392.1:n.*2187C>T | |
| XM_006724330.2:c.*2187C>T (ESS2) | XP_006724393.1:n.*2187C>T | |
| XM_006724331.2:c.*2187C>T (ESS2) | XP_006724394.1:n.*2187C>T | |
| XR_937926.1:n.3576C>T (ESS2) | ||
| NR_134304.1:n.3732C>T (ESS2) | ||
| NM_022719.3:c.*2187C>T (ESS2) MANE Select | NP_073210.1:n.*2187C>T | |
| NM_053006.5:c.610G>A (TSSK2) MANE Select | NP_443732.3:p.Val204Met | |
| NR_134304.2:n.3706C>T (ESS2) |