Linked Data
dbSNP Id:
rs2910686
gnomAD v2:
5-96252589-T-C
gnomAD v3:
5-96916885-T-C
gnomAD v4:
5-96916885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96916885T>C , CM000667.2:g.96916885T>C | GRCh38 |
| NC_000005.9:g.96252589T>C , CM000667.1:g.96252589T>C | GRCh37 |
| NC_000005.8:g.96278345T>C | NCBI36 |
| NG_027839.2:g.24099A>G | |
| NG_051092.1:g.45947T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000510373.6:c.2740-577T>C (ERAP2) | ENSP00000421175.2:n.2740-577T>C | |
| ENST00000437043.8:c.2740-577T>C (ERAP2) MANE Select | ENSP00000400376.3:n.2740-577T>C | |
| ENST00000379904.8:c.2605-577T>C (ERAP2) | ENSP00000369235.4:n.2605-577T>C | |
| ENST00000437043.7:c.2740-577T>C (ERAP2) | ENSP00000400376.3:n.2740-577T>C | |
| ENST00000513084.5:c.*1242-577T>C (ERAP2) | ENSP00000421849.1:n.*1242-577T>C | |
| NM_001130140.1:c.2740-577T>C (ERAP2) | NP_001123612.1:n.2740-577T>C | |
| NM_022350.3:c.2740-577T>C (ERAP2) | NP_071745.1:n.2740-577T>C | |
| XM_011543480.1:c.-706+17237A>G (ERAP1) | XP_011541782.1:n.-706+17237A>G | |
| XM_011543481.1:c.-703+17237A>G (ERAP1) | XP_011541783.1:n.-703+17237A>G | |
| XM_011543482.1:c.-710+17237A>G (ERAP1) | XP_011541784.1:n.-710+17237A>G | |
| XM_011543483.1:c.-873+17237A>G (ERAP1) | XP_011541785.1:n.-873+17237A>G | |
| XM_011543484.1:c.-702+17237A>G (ERAP1) | XP_011541786.1:n.-702+17237A>G | |
| XM_011543485.1:c.-522+17237A>G (ERAP1) | XP_011541787.1:n.-522+17237A>G | |
| XM_011543486.1:c.-706+17237A>G (ERAP1) | XP_011541788.1:n.-706+17237A>G | |
| XM_011543487.1:c.-706+17237A>G (ERAP1) | XP_011541789.1:n.-706+17237A>G | |
| XM_011543544.1:c.2671-577T>C (ERAP2) | XP_011541846.1:n.2671-577T>C | |
| NM_001130140.2:c.2740-577T>C (ERAP2) | NP_001123612.1:n.2740-577T>C | |
| NM_001329229.1:c.2605-577T>C (ERAP2) | NP_001316158.1:n.2605-577T>C | |
| NM_022350.4:c.2740-577T>C (ERAP2) | NP_071745.1:n.2740-577T>C | |
| NR_137637.1:n.3552-577T>C (ERAP2) | ||
| XM_011543480.2:c.-706+17237A>G (ERAP1) | XP_011541782.1:n.-706+17237A>G | |
| XM_011543481.2:c.-703+17237A>G (ERAP1) | XP_011541783.1:n.-703+17237A>G | |
| XM_011543484.2:c.-702+17237A>G (ERAP1) | XP_011541786.1:n.-702+17237A>G | |
| XM_011543485.2:c.-522+17237A>G (ERAP1) | XP_011541787.1:n.-522+17237A>G | |
| XM_011543486.3:c.-706+17237A>G (ERAP1) | XP_011541788.1:n.-706+17237A>G | |
| XM_011543544.2:c.2671-577T>C (ERAP2) | XP_011541846.1:n.2671-577T>C | |
| XM_017009581.1:c.-548+17237A>G (ERAP1) | XP_016865070.1:n.-548+17237A>G | |
| XM_024446113.1:c.-545+17237A>G (ERAP1) | XP_024301881.1:n.-545+17237A>G | |
| XR_001742179.2:n.2953-577T>C (ERAP2) | ||
| NM_022350.5:c.2740-577T>C (ERAP2) MANE Select | NP_071745.1:n.2740-577T>C |