Revel Score:
ENST00000520200
0.101
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.93983773 (EAS)
Genomes Max Group AF
0.93330408 (EAS)
Exomes Max Group AF
0.93830266 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151521739G>A , CM000667.2:g.151521739G>A | GRCh38 |
| NC_000005.9:g.150901300G>A , CM000667.1:g.150901300G>A | GRCh37 |
| NC_000005.8:g.150881493G>A | NCBI36 |
| NG_046979.1:g.135402C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261800.6:c.10854C>T (FAT2) MANE Select | ENSP00000261800.5:p.Tyr3618= | |
| ENST00000261800.5:c.10854C>T (FAT2) | ENSP00000261800.5:p.Tyr3618= | |
| ENST00000520200.5:c.1429C>T (FAT2) | ||
| NM_001447.2:c.10854C>T (FAT2) | NP_001438.1:p.Tyr3618= | |
| XM_006714761.2:c.10854C>T (FAT2) | XP_006714824.1:p.Tyr3618= | |
| XM_011537595.1:c.1253-17514G>A (SLC36A1) | XP_011535897.1:n.1253-17514G>A | |
| XM_011537598.1:c.10854C>T (FAT2) | XP_011535900.1:p.Tyr3618= | |
| XM_011537599.1:c.10854C>T (FAT2) | XP_011535901.1:p.Tyr3618= | |
| XM_011537600.1:c.10854C>T (FAT2) | XP_011535902.1:p.Tyr3618= | |
| XM_011537601.1:c.10854C>T (FAT2) | XP_011535903.1:p.Tyr3618= | |
| XM_011537602.1:c.10854C>T (FAT2) | XP_011535904.1:p.Tyr3618= | |
| XM_011537603.1:c.10854C>T (FAT2) | XP_011535905.1:p.Tyr3618= | |
| XM_011537604.1:c.10854C>T (FAT2) | XP_011535906.1:p.Tyr3618= | |
| XM_011537605.1:c.10854C>T (FAT2) | XP_011535907.1:p.Tyr3618= | |
| XR_944309.1:n.1552-17514G>A (SLC36A1) | ||
| XM_006714761.3:c.10854C>T (FAT2) | XP_006714824.1:p.Tyr3618= | |
| XM_011537595.2:c.1178-17514G>A (SLC36A1) | XP_011535897.2:n.1178-17514G>A | |
| XM_011537600.2:c.10854C>T (FAT2) | XP_011535902.1:p.Tyr3618= | |
| XM_011537603.2:c.10854C>T (FAT2) | XP_011535905.1:p.Tyr3618= | |
| XM_017009217.1:c.1160-17514G>A (SLC36A1) | XP_016864706.1:n.1160-17514G>A | |
| XM_017009219.2:c.926-17514G>A (SLC36A1) | XP_016864708.1:n.926-17514G>A | |
| XM_017009224.1:c.10854C>T (FAT2) | XP_016864713.1:p.Tyr3618= | |
| XM_017009225.1:c.10854C>T (FAT2) | XP_016864714.1:p.Tyr3618= | |
| XM_024446001.1:c.1160-17514G>A (SLC36A1) | XP_024301769.1:n.1160-17514G>A | |
| XR_001742039.1:n.11442C>T (FAT2) | ||
| NM_001447.3:c.10854C>T (FAT2) MANE Select | NP_001438.1:p.Tyr3618= |