Revel Score:
ENST00000437510
0.608
ENST00000420517
0.608
ENST00000452583 (MANE Select)
0.608
ENST00000432997
0.608
ENST00000455865
0.608
ENST00000358316
0.608
ENST00000457763
0.608
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.178825596A>G , CM000665.2:g.178825596A>G | GRCh38 |
| NC_000003.11:g.178543384A>G , CM000665.1:g.178543384A>G | GRCh37 |
| NC_000003.10:g.180026078A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452583.6:c.65A>G (KCNMB2) MANE Select | ENSP00000397483.1:p.Tyr22Cys | |
| ENST00000358316.7:c.65A>G (KCNMB2) | ENSP00000351068.3:p.Tyr22Cys | |
| ENST00000420517.6:c.65A>G (KCNMB2) | ENSP00000408252.2:p.Tyr22Cys | |
| ENST00000422927.1:c.*109A>G (KCNMB2) | ENSP00000414228.1:n.*109A>G | |
| ENST00000432997.5:c.65A>G (KCNMB2) | ENSP00000407592.1:p.Tyr22Cys | |
| ENST00000437510.5:c.65A>G (KCNMB2) | ENSP00000395807.1:p.Tyr22Cys | |
| ENST00000452583.5:c.65A>G (KCNMB2) | ENSP00000397483.1:p.Tyr22Cys | |
| ENST00000455865.5:c.65A>G (KCNMB2) | ENSP00000399100.1:p.Tyr22Cys | |
| ENST00000614557.1:c.65A>G | ENSP00000483415.1:p.Tyr22Cys | |
| ENST00000617329.1:c.65A>G (KCNMB2) | ENSP00000484788.1:p.Tyr22Cys | |
| NM_001278911.1:c.65A>G (KCNMB2) | NP_001265840.1:p.Tyr22Cys | |
| NM_005832.4:c.65A>G (KCNMB2) | NP_005823.1:p.Tyr22Cys | |
| NM_181361.2:c.65A>G (KCNMB2) | NP_852006.1:p.Tyr22Cys | |
| NR_126560.1:n.247+33893T>C (KCNMB2-AS1) | ||
| NR_126561.1:n.248-23662T>C (KCNMB2-AS1) | ||
| XM_011512325.1:c.65A>G (KCNMB2) | XP_011510627.1:p.Tyr22Cys | |
| XM_011512326.1:c.38A>G (KCNMB2) | XP_011510628.1:p.Tyr13Cys | |
| XM_011512327.1:c.38A>G (KCNMB2) | XP_011510629.1:p.Tyr13Cys | |
| XM_011512328.1:c.23A>G (KCNMB2) | XP_011510630.1:p.Tyr8Cys | |
| XM_011512325.2:c.65A>G (KCNMB2) | XP_011510627.1:p.Tyr22Cys | |
| NM_181361.3:c.65A>G (KCNMB2) MANE Select | NP_852006.1:p.Tyr22Cys | |
| NM_001278911.2:c.65A>G (KCNMB2) | NP_001265840.1:p.Tyr22Cys | |
| NM_005832.5:c.65A>G (KCNMB2) | NP_005823.1:p.Tyr22Cys |