Revel Score:
ENST00000371826 (MANE Select)
0.196
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89306147A>C , CM000672.2:g.89306147A>C | GRCh38 |
| NC_000010.10:g.91065904A>C , CM000672.1:g.91065904A>C | GRCh37 |
| NC_000010.9:g.91055884A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371826.4:c.191A>C (IFIT2) MANE Select | ENSP00000360891.3:p.Lys64Thr | |
| ENST00000611722.2:c.186A>C (IFIT2) | ||
| ENST00000638108.1:c.191A>C (IFIT2) | ENSP00000490935.1:p.Lys64Thr | |
| ENST00000679606.1:n.84-2826A>C (IFIT2) | ||
| ENST00000679608.1:n.186-2826A>C (IFIT2) | ||
| ENST00000679619.1:c.186A>C (IFIT2) | ||
| ENST00000679734.1:c.119A>C (IFIT2) | ENSP00000506258.1:p.Lys40Thr | |
| ENST00000679755.1:c.119A>C (IFIT2) | ENSP00000506663.1:p.Lys40Thr | |
| ENST00000680381.1:c.119A>C (IFIT2) | ENSP00000506516.1:p.Lys40Thr | |
| ENST00000680809.1:c.191A>C (IFIT2) | ENSP00000506255.1:p.Lys64Thr | |
| ENST00000680954.1:c.191A>C (IFIT2) | ENSP00000505033.1:p.Lys64Thr | |
| ENST00000681843.1:c.186A>C (IFIT2) | ||
| ENST00000282673.5:c.-2+36464T>G (LIPA) | ENSP00000282673.4:n.-2+36464T>G | |
| ENST00000371826.3:c.191A>C (IFIT2) | ENSP00000360891.3:p.Lys64Thr | |
| ENST00000371837.5:c.62-77749T>G (LIPA) | ENSP00000360903.1:n.62-77749T>G | |
| ENST00000463623.1:n.51-12479T>G (LIPA) | ||
| ENST00000487618.5:n.181+8396T>G (LIPA) | ||
| ENST00000611722.1:c.191A>C (IFIT2) | ENSP00000484770.1:p.Lys64Thr | |
| NM_001547.4:c.191A>C (IFIT2) | NP_001538.4:p.Lys64Thr | |
| XR_946187.1:n.39+8396T>G | ||
| NM_001547.5:c.191A>C (IFIT2) MANE Select | NP_001538.4:p.Lys64Thr |