Canonical Allele Identifier: CA374720920
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439411A>T , CM000671.2:g.120439411A>T GRCh38
NC_000009.11:g.123201689A>T , CM000671.1:g.123201689A>T GRCh37
NC_000009.10:g.122241510A>T NCBI36
NG_008999.1:g.145749T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.3020T>A ENSP00000354065.4:p.Leu1007His
ENST00000416449.6:c.3614T>A ENSP00000400395.2:p.Leu1205His
ENST00000479584.2:n.1957T>A
ENST00000684780.1:n.4000T>A
ENST00000685866.1:c.*1537T>A ENSP00000509484.1:n.*1537T>A
ENST00000686376.1:c.3790T>A ENSP00000510021.1:n.3790T>A
ENST00000686842.1:n.7264T>A
ENST00000687279.1:c.3707T>A ENSP00000508692.1:p.Leu1236His
ENST00000687311.1:n.3673T>A
ENST00000687633.1:c.3611T>A ENSP00000510289.1:p.Leu1204His
ENST00000688923.1:n.3082T>A
ENST00000689688.1:c.3710T>A ENSP00000510155.1:p.Leu1237His
ENST00000690646.1:c.3614T>A ENSP00000510383.1:p.Leu1205His
ENST00000690814.1:c.*886T>A ENSP00000508792.1:n.*886T>A
ENST00000691504.1:n.3604T>A
ENST00000692155.1:c.3790T>A ENSP00000510290.1:n.3790T>A
ENST00000692746.1:n.3617T>A
ENST00000693386.1:c.3614T>A ENSP00000510003.1:p.Leu1205His
ENST00000693433.1:n.3604T>A
ENST00000693714.1:n.3657T>A
ENST00000693728.1:c.3614T>A ENSP00000510580.1:p.Leu1205His
ENST00000349780.9:c.3710T>A MANE Select ENSP00000343818.4:p.Leu1237His
ENST00000349780.8:c.3710T>A ENSP00000343818.4:p.Leu1237His
ENST00000360190.8:c.3710T>A ENSP00000353317.4:p.Leu1237His
ENST00000360822.7:c.3020T>A ENSP00000354065.4:p.Leu1007His
ENST00000416449.5:c.1892T>A ENSP00000400395.1:p.Leu631His
ENST00000425647.1:c.740T>A ENSP00000409941.1:p.Leu247His
ENST00000473282.6:c.*2534T>A ENSP00000419265.1:n.*2534T>A
ENST00000480112.5:c.*1537T>A ENSP00000418418.1:n.*1537T>A
ENST00000483412.5:n.3018T>A
NM_001011649.2:c.3710T>A NP_001011649.1:p.Leu1237His
NM_001272039.1:c.3020T>A NP_001258968.1:p.Leu1007His
NM_018249.5:c.3710T>A NP_060719.4:p.Leu1237His
NR_073554.1:n.3979T>A
NR_073555.1:n.3902T>A
NR_073556.1:n.4109T>A
NR_073557.1:n.3982T>A
NR_073558.1:n.3979T>A
XM_006717182.1:c.3614T>A XP_006717245.1:p.Leu1205His
XM_006717185.1:c.3023T>A XP_006717248.1:p.Leu1008His
XM_011518860.1:c.3707T>A XP_011517162.1:p.Leu1236His
XM_011518861.1:c.3707T>A XP_011517163.1:p.Leu1236His
XM_017014921.1:c.3611T>A XP_016870410.1:p.Leu1204His
XM_017014922.1:c.2876T>A XP_016870411.1:p.Leu959His
XM_017014923.1:c.3023T>A XP_016870412.1:p.Leu1008His
XM_017014924.1:c.1505T>A XP_016870413.1:p.Leu502His
NM_018249.6:c.3710T>A MANE Select NP_060719.4:p.Leu1237His
NM_001011649.3:c.3710T>A NP_001011649.1:p.Leu1237His
NR_073554.2:n.3976T>A
NR_073555.2:n.3899T>A
NR_073556.2:n.4106T>A
NR_073557.2:n.3979T>A
NR_073558.2:n.3976T>A
NM_001272039.2:c.3020T>A NP_001258968.1:p.Leu1007His