Canonical Allele Identifier: CA359948670
Community Standard Title: NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.62350069C>T , CM000667.2:g.62350069C>T GRCh38
NC_000005.9:g.61645896C>T , CM000667.1:g.61645896C>T GRCh37
NC_000005.8:g.61681653C>T NCBI36
NG_042185.1:g.48908C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001098511.3:c.283C>T (KIF2A) MANE Select NP_001091981.1:p.Arg95Ter
ENST00000407818.8:c.283C>T (KIF2A) MANE Select ENSP00000385000.3:p.Arg95Ter
NM_001098511.2:c.283C>T (KIF2A) NP_001091981.1:p.Arg95Ter
NM_001243952.1:c.223C>T (KIF2A) NP_001230881.1:p.Arg75Ter
NM_001243952.2:c.202C>T (KIF2A) NP_001230881.2:p.Arg68Ter
NM_001243953.1:c.283C>T (KIF2A) NP_001230882.1:p.Arg95Ter
NM_001243953.2:c.283C>T (KIF2A) NP_001230882.1:p.Arg95Ter
NM_004520.4:c.283C>T (KIF2A) NP_004511.2:p.Arg95Ter
NM_004520.5:c.283C>T (KIF2A) NP_004511.2:p.Arg95Ter
ENST00000381103.6:c.223C>T (KIF2A) ENSP00000370493.2:p.Arg75Ter
ENST00000381103.7:c.202C>T (KIF2A) ENSP00000370493.3:p.Arg68Ter
ENST00000401507.7:c.283C>T (KIF2A) ENSP00000385622.3:p.Arg95Ter
ENST00000407818.7:c.283C>T (KIF2A) ENSP00000385000.3:p.Arg95Ter
ENST00000504883.1:n.298C>T (KIF2A)
ENST00000504883.2:n.550C>T (KIF2A)
ENST00000506857.5:c.202C>T (KIF2A) ENSP00000423772.1:p.Arg68Ter
ENST00000509663.2:n.331+43533C>T (KIF2A)
ENST00000512541.5:c.202C>T (KIF2A) ENSP00000425411.1:p.Arg68Ter
ENST00000514082.5:c.283C>T (KIF2A) ENSP00000423542.1:p.Arg95Ter
ENST00000514082.6:c.283C>T (KIF2A) ENSP00000423542.2:p.Arg95Ter
ENST00000651114.1:c.*468-857G>A (DIMT1) ENSP00000498538.1:n.*468-857G>A
ENST00000674632.1:c.283C>T (KIF2A) ENSP00000502498.1:p.Arg95Ter
ENST00000674733.1:c.202C>T (KIF2A) ENSP00000502097.1:p.Arg68Ter
ENST00000674751.1:n.550C>T (KIF2A)
ENST00000674752.1:c.202C>T (KIF2A) ENSP00000502272.1:p.Arg68Ter
ENST00000674916.1:c.283C>T (KIF2A) ENSP00000502248.1:p.Arg95Ter
ENST00000675085.1:n.550C>T (KIF2A)
ENST00000676122.1:n.550C>T (KIF2A)
ENST00000676271.1:c.283C>T (KIF2A) ENSP00000501719.1:p.Arg95Ter
ENST00000676413.1:c.202C>T (KIF2A) ENSP00000502125.1:p.Arg68Ter
XR_001742064.2:n.589C>T (KIF2A)