Revel Score:
ENST00000378454 (MANE Select)
0.769
ENST00000451359
0.769
ENST00000274766
0.393
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24357700C>A , CM000668.2:g.24357700C>A | GRCh38 |
| NC_000006.11:g.24357928C>A , CM000668.1:g.24357928C>A | GRCh37 |
| NC_000006.10:g.24465907C>A | NCBI36 |
| NG_012829.1:g.5353G>T | |
| NG_012829.2:g.30593G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274766.2:c.61C>A (KAAG1) | ENSP00000274766.1:p.Leu21Ile | |
| ENST00000378454.8:c.51G>T (DCDC2) MANE Select | ENSP00000367715.3:p.Lys17Asn | |
| ENST00000274766.1:c.61C>A (KAAG1) | ENSP00000274766.1:p.Leu21Ile | |
| ENST00000378454.7:c.51G>T (DCDC2) | ENSP00000367715.3:p.Lys17Asn | |
| NM_001195610.1:c.51G>T (DCDC2) | NP_001182539.1:p.Lys17Asn | |
| NM_016356.4:c.51G>T (DCDC2) | NP_057440.2:p.Lys17Asn | |
| NM_181337.3:c.61C>A (KAAG1) | NP_851854.1:p.Leu21Ile | |
| NM_016356.5:c.51G>T (DCDC2) MANE Select | NP_057440.2:p.Lys17Asn | |
| NM_181337.4:c.61C>A (KAAG1) | NP_851854.1:p.Leu21Ile | |
| NM_001195610.2:c.51G>T (DCDC2) | NP_001182539.1:p.Lys17Asn | |
| NR_174942.1:n.798C>A (KAAG1) |