Linked Data
ClinVar Variation Id:
3186032
ClinVar RCV Id:
RCV004477361
dbSNP Id:
rs757405752
ExAC:
4:186339633 T / G
gnomAD v2:
4-186339633-T-G
gnomAD v3:
4-185418479-T-G
gnomAD v4:
4-185418479-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185418479T>G , CM000666.2:g.185418479T>G | GRCh38 |
| NC_000004.11:g.186339633T>G , CM000666.1:g.186339633T>G | GRCh37 |
| NC_000004.10:g.186576627T>G | NCBI36 |
| NG_051609.1:g.12507A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264689.11:c.295A>C (UFSP2) MANE Select | ENSP00000264689.6:p.Lys99Gln | |
| ENST00000264689.10:c.295A>C (UFSP2) | ENSP00000264689.6:p.Lys99Gln | |
| ENST00000502282.1:n.293A>C (UFSP2) | ||
| ENST00000502428.5:c.295A>C (UFSP2) | ENSP00000424419.1:p.Lys99Gln | |
| ENST00000505357.1:c.277A>C (UFSP2) | ENSP00000423108.1:p.Lys93Gln | |
| ENST00000510755.5:c.295A>C (UFSP2) | ENSP00000421133.1:p.Lys99Gln | |
| ENST00000511485.5:c.35A>C (UFSP2) | ||
| ENST00000514247.5:c.*6A>C (UFSP2) | ENSP00000423599.1:n.*6A>C | |
| NM_018359.3:c.295A>C (UFSP2) | NP_060829.2:p.Lys99Gln | |
| NR_028085.1:n.387A>C (UFSP2) | ||
| XM_006714224.2:c.-323+6066T>G (CFAP96) | XP_006714287.1:n.-323+6066T>G | |
| XM_011531985.1:c.-295+6066T>G (CFAP96) | XP_011530287.1:n.-295+6066T>G | |
| XM_011531986.1:c.-298+6066T>G (CFAP96) | XP_011530288.1:n.-298+6066T>G | |
| XM_011531987.1:c.-320+6066T>G (CFAP96) | XP_011530289.1:n.-320+6066T>G | |
| XM_011531988.1:c.-79+6066T>G (CFAP96) | XP_011530290.1:n.-79+6066T>G | |
| XM_011531990.1:c.-295+6066T>G (CFAP96) | XP_011530292.1:n.-295+6066T>G | |
| XM_011531991.1:c.-377+6066T>G (CFAP96) | XP_011530293.1:n.-377+6066T>G | |
| XM_011531992.1:c.-295+6066T>G (CFAP96) | XP_011530294.1:n.-295+6066T>G | |
| XM_011532090.1:c.295A>C (UFSP2) | XP_011530392.1:p.Lys99Gln | |
| NR_144317.1:n.412A>C (UFSP2) | ||
| XM_017008236.1:c.-295+6066T>G (CFAP96) | XP_016863725.1:n.-295+6066T>G | |
| XM_017008237.1:c.-359+6066T>G (CFAP96) | XP_016863726.1:n.-359+6066T>G | |
| XM_017008238.1:c.-79+6066T>G (CFAP96) | XP_016863727.1:n.-79+6066T>G | |
| XM_017008239.1:c.-82+6066T>G (CFAP96) | XP_016863728.1:n.-82+6066T>G | |
| XM_017008241.1:c.-441+6066T>G (CFAP96) | XP_016863730.1:n.-441+6066T>G | |
| NM_018359.4:c.295A>C (UFSP2) | NP_060829.2:p.Lys99Gln | |
| NM_018359.5:c.295A>C (UFSP2) MANE Select | NP_060829.2:p.Lys99Gln | |
| NR_028085.2:n.366A>C (UFSP2) | ||
| NR_144317.2:n.391A>C (UFSP2) |