Canonical Allele Identifier: CA374721149
Gene: CDK5RAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2035775035

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439508G>A , CM000671.2:g.120439508G>A GRCh38
NC_000009.11:g.123201786G>A , CM000671.1:g.123201786G>A GRCh37
NC_000009.10:g.122241607G>A NCBI36
NG_008999.1:g.145652C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2923C>T ENSP00000354065.4:p.Gln975Ter
ENST00000416449.6:c.3517C>T ENSP00000400395.2:p.Gln1173Ter
ENST00000479584.2:n.1860C>T
ENST00000684780.1:n.3903C>T
ENST00000685866.1:c.*1440C>T ENSP00000509484.1:n.*1440C>T
ENST00000686376.1:c.3693C>T ENSP00000510021.1:n.3693C>T
ENST00000686842.1:n.7167C>T
ENST00000687279.1:c.3610C>T ENSP00000508692.1:p.Gln1204Ter
ENST00000687311.1:n.3576C>T
ENST00000687633.1:c.3514C>T ENSP00000510289.1:p.Gln1172Ter
ENST00000688923.1:n.2985C>T
ENST00000689688.1:c.3613C>T ENSP00000510155.1:p.Gln1205Ter
ENST00000690646.1:c.3517C>T ENSP00000510383.1:p.Gln1173Ter
ENST00000690814.1:c.*789C>T ENSP00000508792.1:n.*789C>T
ENST00000691504.1:n.3507C>T
ENST00000692155.1:c.3693C>T ENSP00000510290.1:n.3693C>T
ENST00000692746.1:n.3520C>T
ENST00000693386.1:c.3517C>T ENSP00000510003.1:p.Gln1173Ter
ENST00000693433.1:n.3507C>T
ENST00000693714.1:n.3560C>T
ENST00000693728.1:c.3517C>T ENSP00000510580.1:p.Gln1173Ter
ENST00000349780.9:c.3613C>T MANE Select ENSP00000343818.4:p.Gln1205Ter
ENST00000349780.8:c.3613C>T ENSP00000343818.4:p.Gln1205Ter
ENST00000360190.8:c.3613C>T ENSP00000353317.4:p.Gln1205Ter
ENST00000360822.7:c.2923C>T ENSP00000354065.4:p.Gln975Ter
ENST00000416449.5:c.1795C>T ENSP00000400395.1:p.Gln599Ter
ENST00000425647.1:c.643C>T ENSP00000409941.1:p.Gln215Ter
ENST00000473282.6:c.*2437C>T ENSP00000419265.1:n.*2437C>T
ENST00000480112.5:c.*1440C>T ENSP00000418418.1:n.*1440C>T
ENST00000483412.5:n.2921C>T
NM_001011649.2:c.3613C>T NP_001011649.1:p.Gln1205Ter
NM_001272039.1:c.2923C>T NP_001258968.1:p.Gln975Ter
NM_018249.5:c.3613C>T NP_060719.4:p.Gln1205Ter
NR_073554.1:n.3882C>T
NR_073555.1:n.3805C>T
NR_073556.1:n.4012C>T
NR_073557.1:n.3885C>T
NR_073558.1:n.3882C>T
XM_006717182.1:c.3517C>T XP_006717245.1:p.Gln1173Ter
XM_006717185.1:c.2926C>T XP_006717248.1:p.Gln976Ter
XM_011518860.1:c.3610C>T XP_011517162.1:p.Gln1204Ter
XM_011518861.1:c.3610C>T XP_011517163.1:p.Gln1204Ter
XM_017014921.1:c.3514C>T XP_016870410.1:p.Gln1172Ter
XM_017014922.1:c.2779C>T XP_016870411.1:p.Gln927Ter
XM_017014923.1:c.2926C>T XP_016870412.1:p.Gln976Ter
XM_017014924.1:c.1408C>T XP_016870413.1:p.Gln470Ter
NM_018249.6:c.3613C>T MANE Select NP_060719.4:p.Gln1205Ter
NM_001011649.3:c.3613C>T NP_001011649.1:p.Gln1205Ter
NR_073554.2:n.3879C>T
NR_073555.2:n.3802C>T
NR_073556.2:n.4009C>T
NR_073557.2:n.3882C>T
NR_073558.2:n.3879C>T
NM_001272039.2:c.2923C>T NP_001258968.1:p.Gln975Ter