Canonical Allele Identifier: CA374721081
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439478T>C , CM000671.2:g.120439478T>C GRCh38
NC_000009.11:g.123201756T>C , CM000671.1:g.123201756T>C GRCh37
NC_000009.10:g.122241577T>C NCBI36
NG_008999.1:g.145682A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2953A>G ENSP00000354065.4:p.Lys985Glu
ENST00000416449.6:c.3547A>G ENSP00000400395.2:p.Lys1183Glu
ENST00000479584.2:n.1890A>G
ENST00000684780.1:n.3933A>G
ENST00000685866.1:c.*1470A>G ENSP00000509484.1:n.*1470A>G
ENST00000686376.1:c.3723A>G ENSP00000510021.1:n.3723A>G
ENST00000686842.1:n.7197A>G
ENST00000687279.1:c.3640A>G ENSP00000508692.1:p.Lys1214Glu
ENST00000687311.1:n.3606A>G
ENST00000687633.1:c.3544A>G ENSP00000510289.1:p.Lys1182Glu
ENST00000688923.1:n.3015A>G
ENST00000689688.1:c.3643A>G ENSP00000510155.1:p.Lys1215Glu
ENST00000690646.1:c.3547A>G ENSP00000510383.1:p.Lys1183Glu
ENST00000690814.1:c.*819A>G ENSP00000508792.1:n.*819A>G
ENST00000691504.1:n.3537A>G
ENST00000692155.1:c.3723A>G ENSP00000510290.1:n.3723A>G
ENST00000692746.1:n.3550A>G
ENST00000693386.1:c.3547A>G ENSP00000510003.1:p.Lys1183Glu
ENST00000693433.1:n.3537A>G
ENST00000693714.1:n.3590A>G
ENST00000693728.1:c.3547A>G ENSP00000510580.1:p.Lys1183Glu
ENST00000349780.9:c.3643A>G MANE Select ENSP00000343818.4:p.Lys1215Glu
ENST00000349780.8:c.3643A>G ENSP00000343818.4:p.Lys1215Glu
ENST00000360190.8:c.3643A>G ENSP00000353317.4:p.Lys1215Glu
ENST00000360822.7:c.2953A>G ENSP00000354065.4:p.Lys985Glu
ENST00000416449.5:c.1825A>G ENSP00000400395.1:p.Lys609Glu
ENST00000425647.1:c.673A>G ENSP00000409941.1:p.Lys225Glu
ENST00000473282.6:c.*2467A>G ENSP00000419265.1:n.*2467A>G
ENST00000480112.5:c.*1470A>G ENSP00000418418.1:n.*1470A>G
ENST00000483412.5:n.2951A>G
NM_001011649.2:c.3643A>G NP_001011649.1:p.Lys1215Glu
NM_001272039.1:c.2953A>G NP_001258968.1:p.Lys985Glu
NM_018249.5:c.3643A>G NP_060719.4:p.Lys1215Glu
NR_073554.1:n.3912A>G
NR_073555.1:n.3835A>G
NR_073556.1:n.4042A>G
NR_073557.1:n.3915A>G
NR_073558.1:n.3912A>G
XM_006717182.1:c.3547A>G XP_006717245.1:p.Lys1183Glu
XM_006717185.1:c.2956A>G XP_006717248.1:p.Lys986Glu
XM_011518860.1:c.3640A>G XP_011517162.1:p.Lys1214Glu
XM_011518861.1:c.3640A>G XP_011517163.1:p.Lys1214Glu
XM_017014921.1:c.3544A>G XP_016870410.1:p.Lys1182Glu
XM_017014922.1:c.2809A>G XP_016870411.1:p.Lys937Glu
XM_017014923.1:c.2956A>G XP_016870412.1:p.Lys986Glu
XM_017014924.1:c.1438A>G XP_016870413.1:p.Lys480Glu
NM_018249.6:c.3643A>G MANE Select NP_060719.4:p.Lys1215Glu
NM_001011649.3:c.3643A>G NP_001011649.1:p.Lys1215Glu
NR_073554.2:n.3909A>G
NR_073555.2:n.3832A>G
NR_073556.2:n.4039A>G
NR_073557.2:n.3912A>G
NR_073558.2:n.3909A>G
NM_001272039.2:c.2953A>G NP_001258968.1:p.Lys985Glu