Canonical Allele Identifier: CA374721075
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439476C>A , CM000671.2:g.120439476C>A GRCh38
NC_000009.11:g.123201754C>A , CM000671.1:g.123201754C>A GRCh37
NC_000009.10:g.122241575C>A NCBI36
NG_008999.1:g.145684G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2955G>T ENSP00000354065.4:p.Lys985Asn
ENST00000416449.6:c.3549G>T ENSP00000400395.2:p.Lys1183Asn
ENST00000479584.2:n.1892G>T
ENST00000684780.1:n.3935G>T
ENST00000685866.1:c.*1472G>T ENSP00000509484.1:n.*1472G>T
ENST00000686376.1:c.3725G>T ENSP00000510021.1:n.3725G>T
ENST00000686842.1:n.7199G>T
ENST00000687279.1:c.3642G>T ENSP00000508692.1:p.Lys1214Asn
ENST00000687311.1:n.3608G>T
ENST00000687633.1:c.3546G>T ENSP00000510289.1:p.Lys1182Asn
ENST00000688923.1:n.3017G>T
ENST00000689688.1:c.3645G>T ENSP00000510155.1:p.Lys1215Asn
ENST00000690646.1:c.3549G>T ENSP00000510383.1:p.Lys1183Asn
ENST00000690814.1:c.*821G>T ENSP00000508792.1:n.*821G>T
ENST00000691504.1:n.3539G>T
ENST00000692155.1:c.3725G>T ENSP00000510290.1:n.3725G>T
ENST00000692746.1:n.3552G>T
ENST00000693386.1:c.3549G>T ENSP00000510003.1:p.Lys1183Asn
ENST00000693433.1:n.3539G>T
ENST00000693714.1:n.3592G>T
ENST00000693728.1:c.3549G>T ENSP00000510580.1:p.Lys1183Asn
ENST00000349780.9:c.3645G>T MANE Select ENSP00000343818.4:p.Lys1215Asn
ENST00000349780.8:c.3645G>T ENSP00000343818.4:p.Lys1215Asn
ENST00000360190.8:c.3645G>T ENSP00000353317.4:p.Lys1215Asn
ENST00000360822.7:c.2955G>T ENSP00000354065.4:p.Lys985Asn
ENST00000416449.5:c.1827G>T ENSP00000400395.1:p.Lys609Asn
ENST00000425647.1:c.675G>T ENSP00000409941.1:p.Lys225Asn
ENST00000473282.6:c.*2469G>T ENSP00000419265.1:n.*2469G>T
ENST00000480112.5:c.*1472G>T ENSP00000418418.1:n.*1472G>T
ENST00000483412.5:n.2953G>T
NM_001011649.2:c.3645G>T NP_001011649.1:p.Lys1215Asn
NM_001272039.1:c.2955G>T NP_001258968.1:p.Lys985Asn
NM_018249.5:c.3645G>T NP_060719.4:p.Lys1215Asn
NR_073554.1:n.3914G>T
NR_073555.1:n.3837G>T
NR_073556.1:n.4044G>T
NR_073557.1:n.3917G>T
NR_073558.1:n.3914G>T
XM_006717182.1:c.3549G>T XP_006717245.1:p.Lys1183Asn
XM_006717185.1:c.2958G>T XP_006717248.1:p.Lys986Asn
XM_011518860.1:c.3642G>T XP_011517162.1:p.Lys1214Asn
XM_011518861.1:c.3642G>T XP_011517163.1:p.Lys1214Asn
XM_017014921.1:c.3546G>T XP_016870410.1:p.Lys1182Asn
XM_017014922.1:c.2811G>T XP_016870411.1:p.Lys937Asn
XM_017014923.1:c.2958G>T XP_016870412.1:p.Lys986Asn
XM_017014924.1:c.1440G>T XP_016870413.1:p.Lys480Asn
NM_018249.6:c.3645G>T MANE Select NP_060719.4:p.Lys1215Asn
NM_001011649.3:c.3645G>T NP_001011649.1:p.Lys1215Asn
NR_073554.2:n.3911G>T
NR_073555.2:n.3834G>T
NR_073556.2:n.4041G>T
NR_073557.2:n.3914G>T
NR_073558.2:n.3911G>T
NM_001272039.2:c.2955G>T NP_001258968.1:p.Lys985Asn