Canonical Allele Identifier: CA374720945
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439421A>T , CM000671.2:g.120439421A>T GRCh38
NC_000009.11:g.123201699A>T , CM000671.1:g.123201699A>T GRCh37
NC_000009.10:g.122241520A>T NCBI36
NG_008999.1:g.145739T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.3010T>A ENSP00000354065.4:p.Phe1004Ile
ENST00000416449.6:c.3604T>A ENSP00000400395.2:p.Phe1202Ile
ENST00000479584.2:n.1947T>A
ENST00000684780.1:n.3990T>A
ENST00000685866.1:c.*1527T>A ENSP00000509484.1:n.*1527T>A
ENST00000686376.1:c.3780T>A ENSP00000510021.1:n.3780T>A
ENST00000686842.1:n.7254T>A
ENST00000687279.1:c.3697T>A ENSP00000508692.1:p.Phe1233Ile
ENST00000687311.1:n.3663T>A
ENST00000687633.1:c.3601T>A ENSP00000510289.1:p.Phe1201Ile
ENST00000688923.1:n.3072T>A
ENST00000689688.1:c.3700T>A ENSP00000510155.1:p.Phe1234Ile
ENST00000690646.1:c.3604T>A ENSP00000510383.1:p.Phe1202Ile
ENST00000690814.1:c.*876T>A ENSP00000508792.1:n.*876T>A
ENST00000691504.1:n.3594T>A
ENST00000692155.1:c.3780T>A ENSP00000510290.1:n.3780T>A
ENST00000692746.1:n.3607T>A
ENST00000693386.1:c.3604T>A ENSP00000510003.1:p.Phe1202Ile
ENST00000693433.1:n.3594T>A
ENST00000693714.1:n.3647T>A
ENST00000693728.1:c.3604T>A ENSP00000510580.1:p.Phe1202Ile
ENST00000349780.9:c.3700T>A MANE Select ENSP00000343818.4:p.Phe1234Ile
ENST00000349780.8:c.3700T>A ENSP00000343818.4:p.Phe1234Ile
ENST00000360190.8:c.3700T>A ENSP00000353317.4:p.Phe1234Ile
ENST00000360822.7:c.3010T>A ENSP00000354065.4:p.Phe1004Ile
ENST00000416449.5:c.1882T>A ENSP00000400395.1:p.Phe628Ile
ENST00000425647.1:c.730T>A ENSP00000409941.1:p.Phe244Ile
ENST00000473282.6:c.*2524T>A ENSP00000419265.1:n.*2524T>A
ENST00000480112.5:c.*1527T>A ENSP00000418418.1:n.*1527T>A
ENST00000483412.5:n.3008T>A
NM_001011649.2:c.3700T>A NP_001011649.1:p.Phe1234Ile
NM_001272039.1:c.3010T>A NP_001258968.1:p.Phe1004Ile
NM_018249.5:c.3700T>A NP_060719.4:p.Phe1234Ile
NR_073554.1:n.3969T>A
NR_073555.1:n.3892T>A
NR_073556.1:n.4099T>A
NR_073557.1:n.3972T>A
NR_073558.1:n.3969T>A
XM_006717182.1:c.3604T>A XP_006717245.1:p.Phe1202Ile
XM_006717185.1:c.3013T>A XP_006717248.1:p.Phe1005Ile
XM_011518860.1:c.3697T>A XP_011517162.1:p.Phe1233Ile
XM_011518861.1:c.3697T>A XP_011517163.1:p.Phe1233Ile
XM_017014921.1:c.3601T>A XP_016870410.1:p.Phe1201Ile
XM_017014922.1:c.2866T>A XP_016870411.1:p.Phe956Ile
XM_017014923.1:c.3013T>A XP_016870412.1:p.Phe1005Ile
XM_017014924.1:c.1495T>A XP_016870413.1:p.Phe499Ile
NM_018249.6:c.3700T>A MANE Select NP_060719.4:p.Phe1234Ile
NM_001011649.3:c.3700T>A NP_001011649.1:p.Phe1234Ile
NR_073554.2:n.3966T>A
NR_073555.2:n.3889T>A
NR_073556.2:n.4096T>A
NR_073557.2:n.3969T>A
NR_073558.2:n.3966T>A
NM_001272039.2:c.3010T>A NP_001258968.1:p.Phe1004Ile