COSMIC:
COSM4003634
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60449014 (AMR)
Genomes Max Group AF
0.57510822 (AMR)
Exomes Max Group AF
0.61198514 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96900192A>G , CM000667.2:g.96900192A>G | GRCh38 |
| NC_000005.9:g.96235896A>G , CM000667.1:g.96235896A>G | GRCh37 |
| NC_000005.8:g.96261652A>G | NCBI36 |
| NG_027839.2:g.40792T>C | |
| NG_051092.1:g.29254A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510373.6:c.1572+3A>G (ERAP2) | ENSP00000421175.2:n.1572+3A>G | |
| ENST00000437043.8:c.1572+3A>G (ERAP2) MANE Select | ENSP00000400376.3:n.1572+3A>G | |
| ENST00000379904.8:c.1437+3A>G (ERAP2) | ENSP00000369235.4:n.1437+3A>G | |
| ENST00000437043.7:c.1572+3A>G (ERAP2) | ENSP00000400376.3:n.1572+3A>G | |
| ENST00000510373.5:c.1572+3A>G (ERAP2) | ENSP00000421175.1:n.1572+3A>G | |
| ENST00000513084.5:c.1575A>G (ERAP2) | ENSP00000421849.1:p.Val525= | |
| ENST00000513368.1:n.364A>G (ERAP2) | ||
| ENST00000515095.5:n.483+3A>G (ERAP2) | ||
| ENST00000515387.1:n.303+3A>G (ERAP2) | ||
| NM_001130140.1:c.1572+3A>G (ERAP2) | NP_001123612.1:n.1572+3A>G | |
| NM_022350.3:c.1572+3A>G (ERAP2) | NP_071745.1:n.1572+3A>G | |
| XM_011543480.1:c.-705-26520T>C (ERAP1) | XP_011541782.1:n.-705-26520T>C | |
| XM_011543481.1:c.-702-26520T>C (ERAP1) | XP_011541783.1:n.-702-26520T>C | |
| XM_011543482.1:c.-709-26520T>C (ERAP1) | XP_011541784.1:n.-709-26520T>C | |
| XM_011543483.1:c.-872-26520T>C (ERAP1) | XP_011541785.1:n.-872-26520T>C | |
| XM_011543484.1:c.-701-26520T>C (ERAP1) | XP_011541786.1:n.-701-26520T>C | |
| XM_011543485.1:c.-521-26520T>C (ERAP1) | XP_011541787.1:n.-521-26520T>C | |
| XM_011543486.1:c.-705-26520T>C (ERAP1) | XP_011541788.1:n.-705-26520T>C | |
| XM_011543487.1:c.-705-26520T>C (ERAP1) | XP_011541789.1:n.-705-26520T>C | |
| XM_011543544.1:c.1504-1314A>G (ERAP2) | XP_011541846.1:n.1504-1314A>G | |
| XR_948283.1:n.1758A>G (ERAP2) | ||
| NM_001130140.2:c.1572+3A>G (ERAP2) | NP_001123612.1:n.1572+3A>G | |
| NM_001329229.1:c.1437+3A>G (ERAP2) | NP_001316158.1:n.1437+3A>G | |
| NM_022350.4:c.1572+3A>G (ERAP2) | NP_071745.1:n.1572+3A>G | |
| NR_137637.1:n.2286A>G (ERAP2) | ||
| XM_011543480.2:c.-705-26520T>C (ERAP1) | XP_011541782.1:n.-705-26520T>C | |
| XM_011543481.2:c.-702-26520T>C (ERAP1) | XP_011541783.1:n.-702-26520T>C | |
| XM_011543484.2:c.-701-26520T>C (ERAP1) | XP_011541786.1:n.-701-26520T>C | |
| XM_011543485.2:c.-521-26520T>C (ERAP1) | XP_011541787.1:n.-521-26520T>C | |
| XM_011543486.3:c.-705-26520T>C (ERAP1) | XP_011541788.1:n.-705-26520T>C | |
| XM_011543544.2:c.1504-1314A>G (ERAP2) | XP_011541846.1:n.1504-1314A>G | |
| XM_017009581.1:c.-547-26814T>C (ERAP1) | XP_016865070.1:n.-547-26814T>C | |
| XM_024446113.1:c.-544-26814T>C (ERAP1) | XP_024301881.1:n.-544-26814T>C | |
| XR_001742179.2:n.1740+3A>G (ERAP2) | ||
| NM_022350.5:c.1572+3A>G (ERAP2) MANE Select | NP_071745.1:n.1572+3A>G |