Linked Data
ClinVar Variation Id:
65400
ClinVar RCV Id:
RCV000055623
dbSNP Id:
rs587777033
PubMed:
PMID:23603762
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.62361330C>G , CM000667.2:g.62361330C>G | GRCh38 |
| NC_000005.9:g.61657157C>G , CM000667.1:g.61657157C>G | GRCh37 |
| NC_000005.8:g.61692914C>G | NCBI36 |
| NG_042185.1:g.60169C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381103.7:c.880C>G (KIF2A) | ENSP00000370493.3:p.His294Asp | |
| ENST00000407818.8:c.961C>G (KIF2A) MANE Select | ENSP00000385000.3:p.His321Asp | |
| ENST00000514082.6:c.961C>G (KIF2A) | ENSP00000423542.2:p.His321Asp | |
| ENST00000651114.1:c.*183-6982G>C (DIMT1) | ENSP00000498538.1:n.*183-6982G>C | |
| ENST00000674632.1:c.904C>G (KIF2A) | ENSP00000502498.1:p.His302Asp | |
| ENST00000674733.1:c.880C>G (KIF2A) | ENSP00000502097.1:p.His294Asp | |
| ENST00000674751.1:n.1228C>G (KIF2A) | ||
| ENST00000674752.1:c.898C>G (KIF2A) | ENSP00000502272.1:p.His300Asp | |
| ENST00000674916.1:c.961C>G (KIF2A) | ENSP00000502248.1:p.His321Asp | |
| ENST00000676122.1:n.1228C>G (KIF2A) | ||
| ENST00000676271.1:c.904C>G (KIF2A) | ENSP00000501719.1:p.His302Asp | |
| ENST00000676413.1:c.880C>G (KIF2A) | ENSP00000502125.1:p.His294Asp | |
| ENST00000381103.6:c.901C>G (KIF2A) | ENSP00000370493.2:p.His301Asp | |
| ENST00000401507.7:c.961C>G (KIF2A) | ENSP00000385622.3:p.His321Asp | |
| ENST00000407818.7:c.961C>G (KIF2A) | ENSP00000385000.3:p.His321Asp | |
| ENST00000506857.5:c.823C>G (KIF2A) | ENSP00000423772.1:p.His275Asp | |
| ENST00000509663.2:n.331+54794C>G (KIF2A) | ||
| ENST00000512006.2:c.25C>G (KIF2A) | ENSP00000421041.2:p.His9Asp | |
| NM_001098511.2:c.961C>G (KIF2A) | NP_001091981.1:p.His321Asp | |
| NM_001243952.1:c.901C>G (KIF2A) | NP_001230881.1:p.His301Asp | |
| NM_001243953.1:c.904C>G (KIF2A) | NP_001230882.1:p.His302Asp | |
| NM_004520.4:c.961C>G (KIF2A) | NP_004511.2:p.His321Asp | |
| XR_001742064.2:n.1267C>G (KIF2A) | ||
| NM_001098511.3:c.961C>G (KIF2A) MANE Select | NP_001091981.1:p.His321Asp | |
| NM_001243952.2:c.880C>G (KIF2A) | NP_001230881.2:p.His294Asp | |
| NM_001243953.2:c.904C>G (KIF2A) | NP_001230882.1:p.His302Asp | |
| NM_004520.5:c.961C>G (KIF2A) | NP_004511.2:p.His321Asp |