Linked Data
ClinVar Variation Id:
161702
ClinVar RCV Id:
RCV000149238
dbSNP Id:
rs193920804
gnomAD v4:
18-47034898-A-G
COSMIC:
COSM1179321
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.47034898A>G , CM000680.2:g.47034898A>G | GRCh38 |
| NC_000018.9:g.44561269A>G , CM000680.1:g.44561269A>G | GRCh37 |
| NC_000018.8:g.42815267A>G | NCBI36 |
| NG_016749.1:g.181T>C | |
| NG_050760.1:g.5720T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245121.10:c.-94-17982A>G (KATNAL2) | ENSP00000245121.4:n.-94-17982A>G | |
| ENST00000332567.6:c.367T>C (ELOA2) MANE Select | ENSP00000331302.4:p.Ser123Pro | |
| ENST00000585383.2:c.128-11559A>G (KATNAL2) | ENSP00000510573.1:n.128-11559A>G | |
| ENST00000588433.6:c.-412-17982A>G (KATNAL2) | ENSP00000464779.2:n.-412-17982A>G | |
| ENST00000591522.2:c.-1-23337A>G (KATNAL2) | ENSP00000467488.2:n.-1-23337A>G | |
| ENST00000683218.1:c.52-11559A>G (KATNAL2) MANE Select | ENSP00000508137.1:n.52-11559A>G | |
| ENST00000685570.1:c.52-23337A>G (KATNAL2) | ENSP00000509944.1:n.52-23337A>G | |
| ENST00000685696.1:c.*145-17982A>G (KATNAL2) | ENSP00000510423.1:n.*145-17982A>G | |
| ENST00000686215.1:c.52-11559A>G (KATNAL2) | ENSP00000510745.1:n.52-11559A>G | |
| ENST00000687039.1:c.52-11559A>G (KATNAL2) | ENSP00000510466.1:n.52-11559A>G | |
| ENST00000687291.1:c.52-24658A>G (KATNAL2) | ENSP00000509033.1:n.52-24658A>G | |
| ENST00000688194.1:c.52-11559A>G (KATNAL2) | ENSP00000510625.1:n.52-11559A>G | |
| ENST00000688563.1:c.52-11559A>G (KATNAL2) | ENSP00000508482.1:n.52-11559A>G | |
| ENST00000688659.1:n.802-23337A>G (KATNAL2) | ||
| ENST00000689545.1:c.52-11559A>G (KATNAL2) | ENSP00000509329.1:n.52-11559A>G | |
| ENST00000690453.1:c.52-23337A>G (KATNAL2) | ENSP00000509979.1:n.52-23337A>G | |
| ENST00000692939.1:c.-94-17982A>G (KATNAL2) | ENSP00000509815.1:n.-94-17982A>G | |
| ENST00000693648.1:c.52-11559A>G (KATNAL2) | ENSP00000510199.1:n.52-11559A>G | |
| ENST00000356157.12:c.52-11559A>G (KATNAL2) | ENSP00000348478.6:n.52-11559A>G | |
| ENST00000245121.9:c.-94-17982A>G (KATNAL2) | ENSP00000245121.4:n.-94-17982A>G | |
| ENST00000332567.5:c.367T>C (ELOA2) | ENSP00000331302.4:p.Ser123Pro | |
| ENST00000356157.11:c.52-11559A>G (KATNAL2) | ENSP00000348478.6:n.52-11559A>G | |
| ENST00000585469.5:c.-72-11493A>G (KATNAL2) | ENSP00000466674.1:n.-72-11493A>G | |
| ENST00000592005.5:c.52-40379A>G (KATNAL2) | ENSP00000467610.1:n.52-40379A>G | |
| ENST00000620522.1:c.367T>C (ELOA2) | ENSP00000479491.1:p.Ser123Pro | |
| NM_016427.2:c.367T>C (ELOA2) | NP_057511.2:p.Ser123Pro | |
| NM_031303.2:c.-94-17982A>G (KATNAL2) | NP_112593.2:n.-94-17982A>G | |
| XM_005258357.3:c.130-11559A>G (KATNAL2) | XP_005258414.1:n.130-11559A>G | |
| XM_005258358.3:c.130-11559A>G (KATNAL2) | XP_005258415.1:n.130-11559A>G | |
| XM_006722554.2:c.52-11559A>G (KATNAL2) | XP_006722617.1:n.52-11559A>G | |
| XM_011526219.1:c.130-11559A>G (KATNAL2) | XP_011524521.1:n.130-11559A>G | |
| XM_011526220.1:c.130-11559A>G (KATNAL2) | XP_011524522.1:n.130-11559A>G | |
| XM_011526221.1:c.130-11559A>G (KATNAL2) | XP_011524523.1:n.130-11559A>G | |
| XM_011526222.1:c.-94-17982A>G (KATNAL2) | XP_011524524.1:n.-94-17982A>G | |
| XM_011526223.1:c.130-11559A>G (KATNAL2) | XP_011524525.1:n.130-11559A>G | |
| NM_001353899.1:c.130-11559A>G (KATNAL2) | NP_001340828.1:n.130-11559A>G | |
| NM_001353900.1:c.130-11559A>G (KATNAL2) | NP_001340829.1:n.130-11559A>G | |
| NM_001353901.1:c.52-11559A>G (KATNAL2) | NP_001340830.1:n.52-11559A>G | |
| NM_001353902.1:c.130-11559A>G (KATNAL2) | NP_001340831.1:n.130-11559A>G | |
| NM_001353903.1:c.-1-23337A>G (KATNAL2) | NP_001340832.1:n.-1-23337A>G | |
| NM_001353904.1:c.-1-23337A>G (KATNAL2) | NP_001340833.1:n.-1-23337A>G | |
| NM_001353905.1:c.-294-11559A>G (KATNAL2) | NP_001340834.1:n.-294-11559A>G | |
| NM_001353906.1:c.-1-23337A>G (KATNAL2) | NP_001340835.1:n.-1-23337A>G | |
| NM_001353907.1:c.-1-23337A>G (KATNAL2) | NP_001340836.1:n.-1-23337A>G | |
| NM_001353908.1:c.-1-23337A>G (KATNAL2) | NP_001340837.1:n.-1-23337A>G | |
| NM_001353909.1:c.-1-23337A>G (KATNAL2) | NP_001340838.1:n.-1-23337A>G | |
| NM_031303.3:c.-94-17982A>G (KATNAL2) | NP_112593.2:n.-94-17982A>G | |
| NR_148563.1:n.623-11559A>G (KATNAL2) | ||
| XM_006722554.4:c.52-11559A>G (KATNAL2) | XP_006722617.1:n.52-11559A>G | |
| XM_011526219.3:c.130-11559A>G (KATNAL2) | XP_011524521.1:n.130-11559A>G | |
| XM_011526220.2:c.130-11559A>G (KATNAL2) | XP_011524522.1:n.130-11559A>G | |
| XM_011526221.3:c.130-11559A>G (KATNAL2) | XP_011524523.1:n.130-11559A>G | |
| XM_011526223.3:c.130-11559A>G (KATNAL2) | XP_011524525.1:n.130-11559A>G | |
| XM_017026028.2:c.130-11559A>G (KATNAL2) | XP_016881517.1:n.130-11559A>G | |
| XM_017026030.2:c.-94-17982A>G (KATNAL2) | XP_016881519.1:n.-94-17982A>G | |
| XR_001753286.2:n.667-11559A>G (KATNAL2) | ||
| XR_002958187.1:n.938-11559A>G (KATNAL2) | ||
| NM_001367621.1:c.52-11559A>G (KATNAL2) | NP_001354550.1:n.52-11559A>G | |
| NM_001387690.1:c.52-11559A>G (KATNAL2) MANE Select | NP_001374619.1:n.52-11559A>G | |
| NM_016427.3:c.367T>C (ELOA2) MANE Select | NP_057511.2:p.Ser123Pro |