Canonical Allele Identifier: CA374721172
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439518G>C , CM000671.2:g.120439518G>C GRCh38
NC_000009.11:g.123201796G>C , CM000671.1:g.123201796G>C GRCh37
NC_000009.10:g.122241617G>C NCBI36
NG_008999.1:g.145642C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2913C>G ENSP00000354065.4:p.Asn971Lys
ENST00000416449.6:c.3507C>G ENSP00000400395.2:p.Asn1169Lys
ENST00000479584.2:n.1850C>G
ENST00000684780.1:n.3893C>G
ENST00000685866.1:c.*1430C>G ENSP00000509484.1:n.*1430C>G
ENST00000686376.1:c.3683C>G ENSP00000510021.1:n.3683C>G
ENST00000686842.1:n.7157C>G
ENST00000687279.1:c.3600C>G ENSP00000508692.1:p.Asn1200Lys
ENST00000687311.1:n.3566C>G
ENST00000687633.1:c.3504C>G ENSP00000510289.1:p.Asn1168Lys
ENST00000688923.1:n.2975C>G
ENST00000689688.1:c.3603C>G ENSP00000510155.1:p.Asn1201Lys
ENST00000690646.1:c.3507C>G ENSP00000510383.1:p.Asn1169Lys
ENST00000690814.1:c.*779C>G ENSP00000508792.1:n.*779C>G
ENST00000691504.1:n.3497C>G
ENST00000692155.1:c.3683C>G ENSP00000510290.1:n.3683C>G
ENST00000692746.1:n.3510C>G
ENST00000693386.1:c.3507C>G ENSP00000510003.1:p.Asn1169Lys
ENST00000693433.1:n.3497C>G
ENST00000693714.1:n.3550C>G
ENST00000693728.1:c.3507C>G ENSP00000510580.1:p.Asn1169Lys
ENST00000349780.9:c.3603C>G MANE Select ENSP00000343818.4:p.Asn1201Lys
ENST00000349780.8:c.3603C>G ENSP00000343818.4:p.Asn1201Lys
ENST00000360190.8:c.3603C>G ENSP00000353317.4:p.Asn1201Lys
ENST00000360822.7:c.2913C>G ENSP00000354065.4:p.Asn971Lys
ENST00000416449.5:c.1785C>G ENSP00000400395.1:p.Asn595Lys
ENST00000425647.1:c.633C>G ENSP00000409941.1:p.Asn211Lys
ENST00000468989.1:n.577C>G
ENST00000473282.6:c.*2427C>G ENSP00000419265.1:n.*2427C>G
ENST00000480112.5:c.*1430C>G ENSP00000418418.1:n.*1430C>G
ENST00000483412.5:n.2911C>G
NM_001011649.2:c.3603C>G NP_001011649.1:p.Asn1201Lys
NM_001272039.1:c.2913C>G NP_001258968.1:p.Asn971Lys
NM_018249.5:c.3603C>G NP_060719.4:p.Asn1201Lys
NR_073554.1:n.3872C>G
NR_073555.1:n.3795C>G
NR_073556.1:n.4002C>G
NR_073557.1:n.3875C>G
NR_073558.1:n.3872C>G
XM_006717182.1:c.3507C>G XP_006717245.1:p.Asn1169Lys
XM_006717185.1:c.2916C>G XP_006717248.1:p.Asn972Lys
XM_011518860.1:c.3600C>G XP_011517162.1:p.Asn1200Lys
XM_011518861.1:c.3600C>G XP_011517163.1:p.Asn1200Lys
XM_017014921.1:c.3504C>G XP_016870410.1:p.Asn1168Lys
XM_017014922.1:c.2769C>G XP_016870411.1:p.Asn923Lys
XM_017014923.1:c.2916C>G XP_016870412.1:p.Asn972Lys
XM_017014924.1:c.1398C>G XP_016870413.1:p.Asn466Lys
NM_018249.6:c.3603C>G MANE Select NP_060719.4:p.Asn1201Lys
NM_001011649.3:c.3603C>G NP_001011649.1:p.Asn1201Lys
NR_073554.2:n.3869C>G
NR_073555.2:n.3792C>G
NR_073556.2:n.3999C>G
NR_073557.2:n.3872C>G
NR_073558.2:n.3869C>G
NM_001272039.2:c.2913C>G NP_001258968.1:p.Asn971Lys