Revel Score:
ENST00000539801
0.802
ENST00000381652 (MANE Select)
0.802
ENST00000544510
0.802
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.5078362A>C , CM000671.2:g.5078362A>C | GRCh38 |
| NC_000009.11:g.5078362A>C , CM000671.1:g.5078362A>C | GRCh37 |
| NC_000009.10:g.5068362A>C | NCBI36 |
| NG_009904.1:g.98118A>C , LRG_612:g.98118A>C | |
| NG_046969.1:g.112349T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381652.4:c.2049A>C (JAK2) MANE Select | ENSP00000371067.4:p.Arg683Ser | |
| ENST00000636127.1:c.2049A>C (JAK2) | ENSP00000489812.1:p.Arg683Ser | |
| ENST00000381652.3:c.2049A>C (JAK2) | ENSP00000371067.3:p.Arg683Ser | |
| NM_004972.3:c.2049A>C , LRG_612t1:c.2049A>C (JAK2) | NP_004963.1:p.Arg683Ser | |
| XM_011517701.1:c.377-63018T>G (INSL6) | XP_011516003.1:n.377-63018T>G | |
| XM_011517702.1:c.376+85817T>G (INSL6) | XP_011516004.1:n.376+85817T>G | |
| XR_929169.1:n.485-63018T>G (INSL6) | ||
| NM_001322194.1:c.2049A>C (JAK2) | NP_001309123.1:p.Arg683Ser | |
| NM_001322195.1:c.2049A>C (JAK2) | NP_001309124.1:p.Arg683Ser | |
| NM_001322196.1:c.2049A>C (JAK2) | NP_001309125.1:p.Arg683Ser | |
| NM_001322198.1:c.834A>C (JAK2) | NP_001309127.1:p.Arg278Ser | |
| NM_001322199.1:c.834A>C (JAK2) | NP_001309128.1:p.Arg278Ser | |
| NM_001322204.1:c.1602A>C (JAK2) | NP_001309133.1:p.Arg534Ser | |
| XM_011517702.3:c.376+85817T>G (INSL6) | XP_011516004.1:n.376+85817T>G | |
| NM_004972.4:c.2049A>C (JAK2) MANE Select | NP_004963.1:p.Arg683Ser | |
| NM_001322194.2:c.2049A>C (JAK2) | NP_001309123.1:p.Arg683Ser | |
| NM_001322195.2:c.2049A>C (JAK2) | NP_001309124.1:p.Arg683Ser | |
| NM_001322196.2:c.2049A>C (JAK2) | NP_001309125.1:p.Arg683Ser | |
| NM_001322198.2:c.834A>C (JAK2) | NP_001309127.1:p.Arg278Ser | |
| NM_001322199.2:c.834A>C (JAK2) | NP_001309128.1:p.Arg278Ser | |
| NM_001322204.2:c.1602A>C (JAK2) | NP_001309133.1:p.Arg534Ser | |
| NR_169763.1:n.2533A>C (JAK2) | ||
| NR_169764.1:n.2450A>C (JAK2) |