Revel Score:
ENST00000348850
0.125
ENST00000358038
0.125
ENST00000359877
0.125
ENST00000370059
0.125
ENST00000356640 (MANE Select)
0.125
ENST00000370046
0.125
ENST00000434163
0.125
ENST00000353068
0.125
ENST00000461105
0.125
ENST00000343195
0.125
ENST00000239117
0.125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101827691T>G , CM000672.2:g.101827691T>G | GRCh38 |
| NC_000010.10:g.103587448T>G , CM000672.1:g.103587448T>G | GRCh37 |
| NC_000010.9:g.103577438T>G | NCBI36 |
| NG_029836.1:g.21230A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356640.7:c.763A>C (KCNIP2) MANE Select | ENSP00000349055.2:p.Lys255Gln | |
| ENST00000642874.1:c.643A>C (KCNIP2) | ENSP00000495474.1:p.Lys215Gln | |
| ENST00000239117.3:c.505A>C (KCNIP2) | ENSP00000239117.3:p.Lys169Gln | |
| ENST00000343195.8:c.613A>C (KCNIP2) | ENSP00000344169.4:p.Lys205Gln | |
| ENST00000348850.9:c.628A>C (KCNIP2) | ENSP00000239118.6:p.Lys210Gln | |
| ENST00000353068.7:c.634A>C (KCNIP2) | ENSP00000341624.3:p.Lys212Gln | |
| ENST00000355657.6:n.1188A>C (KCNIP2) | ||
| ENST00000356640.6:c.763A>C (KCNIP2) | ENSP00000349055.2:p.Lys255Gln | |
| ENST00000358038.7:c.709A>C (KCNIP2) | ENSP00000350733.3:p.Lys237Gln | |
| ENST00000370046.5:c.505A>C (KCNIP2) | ENSP00000359063.1:p.Lys169Gln | |
| ENST00000434163.5:c.484A>C (KCNIP2) | ENSP00000411679.1:p.Lys162Gln | |
| ENST00000460388.5:n.128A>C (KCNIP2) | ||
| ENST00000461105.5:c.808A>C (KCNIP2) | ENSP00000420040.1:p.Lys270Gln | |
| ENST00000472764.5:n.740A>C (KCNIP2) | ||
| NM_014591.4:c.808A>C (KCNIP2) | NP_055406.2:p.Lys270Gln | |
| NM_173191.2:c.763A>C (KCNIP2) | NP_775283.1:p.Lys255Gln | |
| NM_173192.2:c.709A>C (KCNIP2) | NP_775284.1:p.Lys237Gln | |
| NM_173193.2:c.634A>C (KCNIP2) | NP_775285.1:p.Lys212Gln | |
| NM_173194.2:c.628A>C (KCNIP2) | NP_775286.1:p.Lys210Gln | |
| NM_173195.2:c.613A>C (KCNIP2) | NP_775287.1:p.Lys205Gln | |
| NM_173197.2:c.505A>C (KCNIP2) | NP_775289.1:p.Lys169Gln | |
| NR_045118.1:n.182-169T>G (KCNIP2-AS1) | ||
| XM_005269729.1:c.709A>C (KCNIP2) | XP_005269786.1:p.Lys237Gln | |
| XM_005269730.1:c.613A>C (KCNIP2) | XP_005269787.1:p.Lys205Gln | |
| XM_006717812.1:c.763A>C (KCNIP2) | XP_006717875.1:p.Lys255Gln | |
| XM_011539731.1:c.628A>C (KCNIP2) | XP_011538033.1:p.Lys210Gln | |
| XM_005269729.2:c.709A>C (KCNIP2) | XP_005269786.1:p.Lys237Gln | |
| XM_005269730.2:c.613A>C (KCNIP2) | XP_005269787.1:p.Lys205Gln | |
| XM_006717812.2:c.763A>C (KCNIP2) | XP_006717875.1:p.Lys255Gln | |
| XM_011539731.2:c.628A>C (KCNIP2) | XP_011538033.1:p.Lys210Gln | |
| XM_017016161.1:c.643A>C (KCNIP2) | XP_016871650.1:p.Lys215Gln | |
| NM_014591.5:c.808A>C (KCNIP2) | NP_055406.2:p.Lys270Gln | |
| NM_173191.3:c.763A>C (KCNIP2) MANE Select | NP_775283.1:p.Lys255Gln | |
| NM_173193.3:c.634A>C (KCNIP2) | NP_775285.1:p.Lys212Gln | |
| NM_173194.3:c.628A>C (KCNIP2) | NP_775286.1:p.Lys210Gln | |
| NM_173195.3:c.613A>C (KCNIP2) | NP_775287.1:p.Lys205Gln | |
| NM_173192.3:c.709A>C (KCNIP2) | NP_775284.1:p.Lys237Gln | |
| NM_173197.3:c.505A>C (KCNIP2) | NP_775289.1:p.Lys169Gln |