Canonical Allele Identifier: CA374721006
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439448T>G , CM000671.2:g.120439448T>G GRCh38
NC_000009.11:g.123201726T>G , CM000671.1:g.123201726T>G GRCh37
NC_000009.10:g.122241547T>G NCBI36
NG_008999.1:g.145712A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2983A>C ENSP00000354065.4:p.Ser995Arg
ENST00000416449.6:c.3577A>C ENSP00000400395.2:p.Ser1193Arg
ENST00000479584.2:n.1920A>C
ENST00000684780.1:n.3963A>C
ENST00000685866.1:c.*1500A>C ENSP00000509484.1:n.*1500A>C
ENST00000686376.1:c.3753A>C ENSP00000510021.1:n.3753A>C
ENST00000686842.1:n.7227A>C
ENST00000687279.1:c.3670A>C ENSP00000508692.1:p.Ser1224Arg
ENST00000687311.1:n.3636A>C
ENST00000687633.1:c.3574A>C ENSP00000510289.1:p.Ser1192Arg
ENST00000688923.1:n.3045A>C
ENST00000689688.1:c.3673A>C ENSP00000510155.1:p.Ser1225Arg
ENST00000690646.1:c.3577A>C ENSP00000510383.1:p.Ser1193Arg
ENST00000690814.1:c.*849A>C ENSP00000508792.1:n.*849A>C
ENST00000691504.1:n.3567A>C
ENST00000692155.1:c.3753A>C ENSP00000510290.1:n.3753A>C
ENST00000692746.1:n.3580A>C
ENST00000693386.1:c.3577A>C ENSP00000510003.1:p.Ser1193Arg
ENST00000693433.1:n.3567A>C
ENST00000693714.1:n.3620A>C
ENST00000693728.1:c.3577A>C ENSP00000510580.1:p.Ser1193Arg
ENST00000349780.9:c.3673A>C MANE Select ENSP00000343818.4:p.Ser1225Arg
ENST00000349780.8:c.3673A>C ENSP00000343818.4:p.Ser1225Arg
ENST00000360190.8:c.3673A>C ENSP00000353317.4:p.Ser1225Arg
ENST00000360822.7:c.2983A>C ENSP00000354065.4:p.Ser995Arg
ENST00000416449.5:c.1855A>C ENSP00000400395.1:p.Ser619Arg
ENST00000425647.1:c.703A>C ENSP00000409941.1:p.Ser235Arg
ENST00000473282.6:c.*2497A>C ENSP00000419265.1:n.*2497A>C
ENST00000480112.5:c.*1500A>C ENSP00000418418.1:n.*1500A>C
ENST00000483412.5:n.2981A>C
NM_001011649.2:c.3673A>C NP_001011649.1:p.Ser1225Arg
NM_001272039.1:c.2983A>C NP_001258968.1:p.Ser995Arg
NM_018249.5:c.3673A>C NP_060719.4:p.Ser1225Arg
NR_073554.1:n.3942A>C
NR_073555.1:n.3865A>C
NR_073556.1:n.4072A>C
NR_073557.1:n.3945A>C
NR_073558.1:n.3942A>C
XM_006717182.1:c.3577A>C XP_006717245.1:p.Ser1193Arg
XM_006717185.1:c.2986A>C XP_006717248.1:p.Ser996Arg
XM_011518860.1:c.3670A>C XP_011517162.1:p.Ser1224Arg
XM_011518861.1:c.3670A>C XP_011517163.1:p.Ser1224Arg
XM_017014921.1:c.3574A>C XP_016870410.1:p.Ser1192Arg
XM_017014922.1:c.2839A>C XP_016870411.1:p.Ser947Arg
XM_017014923.1:c.2986A>C XP_016870412.1:p.Ser996Arg
XM_017014924.1:c.1468A>C XP_016870413.1:p.Ser490Arg
NM_018249.6:c.3673A>C MANE Select NP_060719.4:p.Ser1225Arg
NM_001011649.3:c.3673A>C NP_001011649.1:p.Ser1225Arg
NR_073554.2:n.3939A>C
NR_073555.2:n.3862A>C
NR_073556.2:n.4069A>C
NR_073557.2:n.3942A>C
NR_073558.2:n.3939A>C
NM_001272039.2:c.2983A>C NP_001258968.1:p.Ser995Arg