Revel Score:
ENST00000437043 (MANE Select)
0.067
ENST00000510373
0.067
ENST00000513084
0.067
ENST00000379904
0.067
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.60413806 (AMR)
Genomes Max Group AF
0.57553812 (AMR)
Exomes Max Group AF
0.61139485 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96895296G>T , CM000667.2:g.96895296G>T | GRCh38 |
| NC_000005.9:g.96231000G>T , CM000667.1:g.96231000G>T | GRCh37 |
| NC_000005.8:g.96256756G>T | NCBI36 |
| NG_027839.2:g.45688C>A | |
| NG_051092.1:g.24358G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510373.6:c.1176G>T (ERAP2) | ENSP00000421175.2:p.Lys392Asn | |
| ENST00000437043.8:c.1176G>T (ERAP2) MANE Select | ENSP00000400376.3:p.Lys392Asn | |
| ENST00000379904.8:c.1041G>T (ERAP2) | ENSP00000369235.4:p.Lys347Asn | |
| ENST00000437043.7:c.1176G>T (ERAP2) | ENSP00000400376.3:p.Lys392Asn | |
| ENST00000508077.1:c.295G>T (ERAP2) | ||
| ENST00000510373.5:c.1176G>T (ERAP2) | ENSP00000421175.1:p.Lys392Asn | |
| ENST00000513084.5:c.1176G>T (ERAP2) | ENSP00000421849.1:p.Lys392Asn | |
| ENST00000515095.5:n.87G>T (ERAP2) | ||
| NM_001130140.1:c.1176G>T (ERAP2) | NP_001123612.1:p.Lys392Asn | |
| NM_022350.3:c.1176G>T (ERAP2) | NP_071745.1:p.Lys392Asn | |
| XM_011543480.1:c.-705-21624C>A (ERAP1) | XP_011541782.1:n.-705-21624C>A | |
| XM_011543481.1:c.-702-21624C>A (ERAP1) | XP_011541783.1:n.-702-21624C>A | |
| XM_011543482.1:c.-709-21624C>A (ERAP1) | XP_011541784.1:n.-709-21624C>A | |
| XM_011543483.1:c.-872-21624C>A (ERAP1) | XP_011541785.1:n.-872-21624C>A | |
| XM_011543484.1:c.-701-21624C>A (ERAP1) | XP_011541786.1:n.-701-21624C>A | |
| XM_011543485.1:c.-521-21624C>A (ERAP1) | XP_011541787.1:n.-521-21624C>A | |
| XM_011543486.1:c.-705-21624C>A (ERAP1) | XP_011541788.1:n.-705-21624C>A | |
| XM_011543487.1:c.-705-21624C>A (ERAP1) | XP_011541789.1:n.-705-21624C>A | |
| XM_011543544.1:c.1176G>T (ERAP2) | XP_011541846.1:p.Lys392Asn | |
| XR_948283.1:n.1359G>T (ERAP2) | ||
| NM_001130140.2:c.1176G>T (ERAP2) | NP_001123612.1:p.Lys392Asn | |
| NM_001329229.1:c.1041G>T (ERAP2) | NP_001316158.1:p.Lys347Asn | |
| NM_022350.4:c.1176G>T (ERAP2) | NP_071745.1:p.Lys392Asn | |
| NR_137637.1:n.1887G>T (ERAP2) | ||
| XM_011543480.2:c.-705-21624C>A (ERAP1) | XP_011541782.1:n.-705-21624C>A | |
| XM_011543481.2:c.-702-21624C>A (ERAP1) | XP_011541783.1:n.-702-21624C>A | |
| XM_011543484.2:c.-701-21624C>A (ERAP1) | XP_011541786.1:n.-701-21624C>A | |
| XM_011543485.2:c.-521-21624C>A (ERAP1) | XP_011541787.1:n.-521-21624C>A | |
| XM_011543486.3:c.-705-21624C>A (ERAP1) | XP_011541788.1:n.-705-21624C>A | |
| XM_011543544.2:c.1176G>T (ERAP2) | XP_011541846.1:p.Lys392Asn | |
| XM_017009581.1:c.-547-21918C>A (ERAP1) | XP_016865070.1:n.-547-21918C>A | |
| XM_024446113.1:c.-544-21918C>A (ERAP1) | XP_024301881.1:n.-544-21918C>A | |
| XR_001742179.2:n.1344G>T (ERAP2) | ||
| NM_022350.5:c.1176G>T (ERAP2) MANE Select | NP_071745.1:p.Lys392Asn |