Linked Data
ClinVar Variation Id:
506410
dbSNP Id:
rs61748225
ExAC:
5:61676975 G / A
gnomAD v2:
5-61676975-G-A
gnomAD v3:
5-62381148-G-A
gnomAD v4:
5-62381148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.62381148G>A , CM000667.2:g.62381148G>A | GRCh38 |
| NC_000005.9:g.61676975G>A , CM000667.1:g.61676975G>A | GRCh37 |
| NC_000005.8:g.61712732G>A | NCBI36 |
| NG_042185.1:g.79987G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381103.7:c.1849G>A (KIF2A) | ENSP00000370493.3:p.Ala617Thr | |
| ENST00000407818.8:c.2044G>A (KIF2A) MANE Select | ENSP00000385000.3:p.Ala682Thr | |
| ENST00000651114.1:c.925+7879C>T (DIMT1) | ENSP00000498538.1:n.925+7879C>T | |
| ENST00000674632.1:c.1987G>A (KIF2A) | ENSP00000502498.1:p.Ala663Thr | |
| ENST00000674733.1:c.1963G>A (KIF2A) | ENSP00000502097.1:p.Ala655Thr | |
| ENST00000674751.1:n.2685G>A (KIF2A) | ||
| ENST00000674752.1:c.1867G>A (KIF2A) | ENSP00000502272.1:p.Ala623Thr | |
| ENST00000674916.1:c.1582G>A (KIF2A) | ENSP00000502248.1:p.Ala528Thr | |
| ENST00000675387.1:n.733G>A (KIF2A) | ||
| ENST00000675534.1:n.2103G>A (KIF2A) | ||
| ENST00000676122.1:n.3117G>A (KIF2A) | ||
| ENST00000676271.1:c.1873G>A (KIF2A) | ENSP00000501719.1:p.Ala625Thr | |
| ENST00000676413.1:c.1849G>A (KIF2A) | ENSP00000502125.1:p.Ala617Thr | |
| ENST00000381103.6:c.1870G>A (KIF2A) | ENSP00000370493.2:p.Ala624Thr | |
| ENST00000401507.7:c.1930G>A (KIF2A) | ENSP00000385622.3:p.Ala644Thr | |
| ENST00000407818.7:c.2044G>A (KIF2A) | ENSP00000385000.3:p.Ala682Thr | |
| ENST00000506857.5:c.1792G>A (KIF2A) | ENSP00000423772.1:p.Ala598Thr | |
| ENST00000509663.2:n.331+74612G>A (KIF2A) | ||
| NM_001098511.2:c.2044G>A (KIF2A) | NP_001091981.1:p.Ala682Thr | |
| NM_001243952.1:c.1870G>A (KIF2A) | NP_001230881.1:p.Ala624Thr | |
| NM_001243953.1:c.1873G>A (KIF2A) | NP_001230882.1:p.Ala625Thr | |
| NM_004520.4:c.1930G>A (KIF2A) | NP_004511.2:p.Ala644Thr | |
| NM_001098511.3:c.2044G>A (KIF2A) MANE Select | NP_001091981.1:p.Ala682Thr | |
| NM_001243952.2:c.1849G>A (KIF2A) | NP_001230881.2:p.Ala617Thr | |
| NM_001243953.2:c.1873G>A (KIF2A) | NP_001230882.1:p.Ala625Thr | |
| NM_004520.5:c.1930G>A (KIF2A) | NP_004511.2:p.Ala644Thr |