Canonical Allele Identifier: CA359948531
Community Standard Title: NM_001098511.3(KIF2A):c.224G>A (p.Ser75Asn)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.62348112G>A , CM000667.2:g.62348112G>A GRCh38
NC_000005.9:g.61643939G>A , CM000667.1:g.61643939G>A GRCh37
NC_000005.8:g.61679696G>A NCBI36
NG_042185.1:g.46951G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001098511.3:c.224G>A (KIF2A) MANE Select NP_001091981.1:p.Ser75Asn
ENST00000407818.8:c.224G>A (KIF2A) MANE Select ENSP00000385000.3:p.Ser75Asn
NM_001098511.2:c.224G>A (KIF2A) NP_001091981.1:p.Ser75Asn
NM_001243952.1:c.164G>A (KIF2A) NP_001230881.1:p.Ser55Asn
NM_001243952.2:c.143G>A (KIF2A) NP_001230881.2:p.Ser48Asn
NM_001243953.1:c.224G>A (KIF2A) NP_001230882.1:p.Ser75Asn
NM_001243953.2:c.224G>A (KIF2A) NP_001230882.1:p.Ser75Asn
NM_004520.4:c.224G>A (KIF2A) NP_004511.2:p.Ser75Asn
NM_004520.5:c.224G>A (KIF2A) NP_004511.2:p.Ser75Asn
ENST00000381103.6:c.164G>A (KIF2A) ENSP00000370493.2:p.Ser55Asn
ENST00000381103.7:c.143G>A (KIF2A) ENSP00000370493.3:p.Ser48Asn
ENST00000401507.7:c.224G>A (KIF2A) ENSP00000385622.3:p.Ser75Asn
ENST00000407818.7:c.224G>A (KIF2A) ENSP00000385000.3:p.Ser75Asn
ENST00000504883.1:n.239G>A (KIF2A)
ENST00000504883.2:n.491G>A (KIF2A)
ENST00000506857.5:c.143G>A (KIF2A) ENSP00000423772.1:p.Ser48Asn
ENST00000509663.2:n.331+41576G>A (KIF2A)
ENST00000512541.5:c.143G>A (KIF2A) ENSP00000425411.1:p.Ser48Asn
ENST00000514082.5:c.224G>A (KIF2A) ENSP00000423542.1:p.Ser75Asn
ENST00000514082.6:c.224G>A (KIF2A) ENSP00000423542.2:p.Ser75Asn
ENST00000651114.1:c.*1568C>T (DIMT1) ENSP00000498538.1:n.*1568C>T
ENST00000674632.1:c.224G>A (KIF2A) ENSP00000502498.1:p.Ser75Asn
ENST00000674733.1:c.143G>A (KIF2A) ENSP00000502097.1:p.Ser48Asn
ENST00000674751.1:n.491G>A (KIF2A)
ENST00000674752.1:c.143G>A (KIF2A) ENSP00000502272.1:p.Ser48Asn
ENST00000674916.1:c.224G>A (KIF2A) ENSP00000502248.1:p.Ser75Asn
ENST00000675085.1:n.491G>A (KIF2A)
ENST00000676122.1:n.491G>A (KIF2A)
ENST00000676271.1:c.224G>A (KIF2A) ENSP00000501719.1:p.Ser75Asn
ENST00000676413.1:c.143G>A (KIF2A) ENSP00000502125.1:p.Ser48Asn
XR_001742064.2:n.530G>A (KIF2A)