Canonical Allele Identifier: CA374721028
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439457G>T , CM000671.2:g.120439457G>T GRCh38
NC_000009.11:g.123201735G>T , CM000671.1:g.123201735G>T GRCh37
NC_000009.10:g.122241556G>T NCBI36
NG_008999.1:g.145703C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2974C>A ENSP00000354065.4:p.Gln992Lys
ENST00000416449.6:c.3568C>A ENSP00000400395.2:p.Gln1190Lys
ENST00000479584.2:n.1911C>A
ENST00000684780.1:n.3954C>A
ENST00000685866.1:c.*1491C>A ENSP00000509484.1:n.*1491C>A
ENST00000686376.1:c.3744C>A ENSP00000510021.1:n.3744C>A
ENST00000686842.1:n.7218C>A
ENST00000687279.1:c.3661C>A ENSP00000508692.1:p.Gln1221Lys
ENST00000687311.1:n.3627C>A
ENST00000687633.1:c.3565C>A ENSP00000510289.1:p.Gln1189Lys
ENST00000688923.1:n.3036C>A
ENST00000689688.1:c.3664C>A ENSP00000510155.1:p.Gln1222Lys
ENST00000690646.1:c.3568C>A ENSP00000510383.1:p.Gln1190Lys
ENST00000690814.1:c.*840C>A ENSP00000508792.1:n.*840C>A
ENST00000691504.1:n.3558C>A
ENST00000692155.1:c.3744C>A ENSP00000510290.1:n.3744C>A
ENST00000692746.1:n.3571C>A
ENST00000693386.1:c.3568C>A ENSP00000510003.1:p.Gln1190Lys
ENST00000693433.1:n.3558C>A
ENST00000693714.1:n.3611C>A
ENST00000693728.1:c.3568C>A ENSP00000510580.1:p.Gln1190Lys
ENST00000349780.9:c.3664C>A MANE Select ENSP00000343818.4:p.Gln1222Lys
ENST00000349780.8:c.3664C>A ENSP00000343818.4:p.Gln1222Lys
ENST00000360190.8:c.3664C>A ENSP00000353317.4:p.Gln1222Lys
ENST00000360822.7:c.2974C>A ENSP00000354065.4:p.Gln992Lys
ENST00000416449.5:c.1846C>A ENSP00000400395.1:p.Gln616Lys
ENST00000425647.1:c.694C>A ENSP00000409941.1:p.Gln232Lys
ENST00000473282.6:c.*2488C>A ENSP00000419265.1:n.*2488C>A
ENST00000480112.5:c.*1491C>A ENSP00000418418.1:n.*1491C>A
ENST00000483412.5:n.2972C>A
NM_001011649.2:c.3664C>A NP_001011649.1:p.Gln1222Lys
NM_001272039.1:c.2974C>A NP_001258968.1:p.Gln992Lys
NM_018249.5:c.3664C>A NP_060719.4:p.Gln1222Lys
NR_073554.1:n.3933C>A
NR_073555.1:n.3856C>A
NR_073556.1:n.4063C>A
NR_073557.1:n.3936C>A
NR_073558.1:n.3933C>A
XM_006717182.1:c.3568C>A XP_006717245.1:p.Gln1190Lys
XM_006717185.1:c.2977C>A XP_006717248.1:p.Gln993Lys
XM_011518860.1:c.3661C>A XP_011517162.1:p.Gln1221Lys
XM_011518861.1:c.3661C>A XP_011517163.1:p.Gln1221Lys
XM_017014921.1:c.3565C>A XP_016870410.1:p.Gln1189Lys
XM_017014922.1:c.2830C>A XP_016870411.1:p.Gln944Lys
XM_017014923.1:c.2977C>A XP_016870412.1:p.Gln993Lys
XM_017014924.1:c.1459C>A XP_016870413.1:p.Gln487Lys
NM_018249.6:c.3664C>A MANE Select NP_060719.4:p.Gln1222Lys
NM_001011649.3:c.3664C>A NP_001011649.1:p.Gln1222Lys
NR_073554.2:n.3930C>A
NR_073555.2:n.3853C>A
NR_073556.2:n.4060C>A
NR_073557.2:n.3933C>A
NR_073558.2:n.3930C>A
NM_001272039.2:c.2974C>A NP_001258968.1:p.Gln992Lys