Canonical Allele Identifier: CA374721067
Gene: CDK5RAP2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439472G>A , CM000671.2:g.120439472G>A GRCh38
NC_000009.11:g.123201750G>A , CM000671.1:g.123201750G>A GRCh37
NC_000009.10:g.122241571G>A NCBI36
NG_008999.1:g.145688C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2959C>T ENSP00000354065.4:p.Gln987Ter
ENST00000416449.6:c.3553C>T ENSP00000400395.2:p.Gln1185Ter
ENST00000479584.2:n.1896C>T
ENST00000684780.1:n.3939C>T
ENST00000685866.1:c.*1476C>T ENSP00000509484.1:n.*1476C>T
ENST00000686376.1:c.3729C>T ENSP00000510021.1:n.3729C>T
ENST00000686842.1:n.7203C>T
ENST00000687279.1:c.3646C>T ENSP00000508692.1:p.Gln1216Ter
ENST00000687311.1:n.3612C>T
ENST00000687633.1:c.3550C>T ENSP00000510289.1:p.Gln1184Ter
ENST00000688923.1:n.3021C>T
ENST00000689688.1:c.3649C>T ENSP00000510155.1:p.Gln1217Ter
ENST00000690646.1:c.3553C>T ENSP00000510383.1:p.Gln1185Ter
ENST00000690814.1:c.*825C>T ENSP00000508792.1:n.*825C>T
ENST00000691504.1:n.3543C>T
ENST00000692155.1:c.3729C>T ENSP00000510290.1:n.3729C>T
ENST00000692746.1:n.3556C>T
ENST00000693386.1:c.3553C>T ENSP00000510003.1:p.Gln1185Ter
ENST00000693433.1:n.3543C>T
ENST00000693714.1:n.3596C>T
ENST00000693728.1:c.3553C>T ENSP00000510580.1:p.Gln1185Ter
ENST00000349780.9:c.3649C>T MANE Select ENSP00000343818.4:p.Gln1217Ter
ENST00000349780.8:c.3649C>T ENSP00000343818.4:p.Gln1217Ter
ENST00000360190.8:c.3649C>T ENSP00000353317.4:p.Gln1217Ter
ENST00000360822.7:c.2959C>T ENSP00000354065.4:p.Gln987Ter
ENST00000416449.5:c.1831C>T ENSP00000400395.1:p.Gln611Ter
ENST00000425647.1:c.679C>T ENSP00000409941.1:p.Gln227Ter
ENST00000473282.6:c.*2473C>T ENSP00000419265.1:n.*2473C>T
ENST00000480112.5:c.*1476C>T ENSP00000418418.1:n.*1476C>T
ENST00000483412.5:n.2957C>T
NM_001011649.2:c.3649C>T NP_001011649.1:p.Gln1217Ter
NM_001272039.1:c.2959C>T NP_001258968.1:p.Gln987Ter
NM_018249.5:c.3649C>T NP_060719.4:p.Gln1217Ter
NR_073554.1:n.3918C>T
NR_073555.1:n.3841C>T
NR_073556.1:n.4048C>T
NR_073557.1:n.3921C>T
NR_073558.1:n.3918C>T
XM_006717182.1:c.3553C>T XP_006717245.1:p.Gln1185Ter
XM_006717185.1:c.2962C>T XP_006717248.1:p.Gln988Ter
XM_011518860.1:c.3646C>T XP_011517162.1:p.Gln1216Ter
XM_011518861.1:c.3646C>T XP_011517163.1:p.Gln1216Ter
XM_017014921.1:c.3550C>T XP_016870410.1:p.Gln1184Ter
XM_017014922.1:c.2815C>T XP_016870411.1:p.Gln939Ter
XM_017014923.1:c.2962C>T XP_016870412.1:p.Gln988Ter
XM_017014924.1:c.1444C>T XP_016870413.1:p.Gln482Ter
NM_018249.6:c.3649C>T MANE Select NP_060719.4:p.Gln1217Ter
NM_001011649.3:c.3649C>T NP_001011649.1:p.Gln1217Ter
NR_073554.2:n.3915C>T
NR_073555.2:n.3838C>T
NR_073556.2:n.4045C>T
NR_073557.2:n.3918C>T
NR_073558.2:n.3915C>T
NM_001272039.2:c.2959C>T NP_001258968.1:p.Gln987Ter