Canonical Allele Identifier: CA374721186
Gene: CDK5RAP2 HGNC NCBI

Linked Data

dbSNP Id: rs2035775946

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439523C>T , CM000671.2:g.120439523C>T GRCh38
NC_000009.11:g.123201801C>T , CM000671.1:g.123201801C>T GRCh37
NC_000009.10:g.122241622C>T NCBI36
NG_008999.1:g.145637G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2908G>A ENSP00000354065.4:p.Glu970Lys
ENST00000416449.6:c.3502G>A ENSP00000400395.2:p.Glu1168Lys
ENST00000479584.2:n.1845G>A
ENST00000684780.1:n.3888G>A
ENST00000685866.1:c.*1425G>A ENSP00000509484.1:n.*1425G>A
ENST00000686376.1:c.3678G>A ENSP00000510021.1:n.3678G>A
ENST00000686842.1:n.7152G>A
ENST00000687279.1:c.3595G>A ENSP00000508692.1:p.Glu1199Lys
ENST00000687311.1:n.3561G>A
ENST00000687633.1:c.3499G>A ENSP00000510289.1:p.Glu1167Lys
ENST00000688923.1:n.2970G>A
ENST00000689688.1:c.3598G>A ENSP00000510155.1:p.Glu1200Lys
ENST00000690646.1:c.3502G>A ENSP00000510383.1:p.Glu1168Lys
ENST00000690814.1:c.*774G>A ENSP00000508792.1:n.*774G>A
ENST00000691504.1:n.3492G>A
ENST00000692155.1:c.3678G>A ENSP00000510290.1:n.3678G>A
ENST00000692746.1:n.3505G>A
ENST00000693386.1:c.3502G>A ENSP00000510003.1:p.Glu1168Lys
ENST00000693433.1:n.3492G>A
ENST00000693714.1:n.3545G>A
ENST00000693728.1:c.3502G>A ENSP00000510580.1:p.Glu1168Lys
ENST00000349780.9:c.3598G>A MANE Select ENSP00000343818.4:p.Glu1200Lys
ENST00000349780.8:c.3598G>A ENSP00000343818.4:p.Glu1200Lys
ENST00000360190.8:c.3598G>A ENSP00000353317.4:p.Glu1200Lys
ENST00000360822.7:c.2908G>A ENSP00000354065.4:p.Glu970Lys
ENST00000416449.5:c.1780G>A ENSP00000400395.1:p.Glu594Lys
ENST00000425647.1:c.628G>A ENSP00000409941.1:p.Glu210Lys
ENST00000468989.1:n.572G>A
ENST00000473282.6:c.*2422G>A ENSP00000419265.1:n.*2422G>A
ENST00000480112.5:c.*1425G>A ENSP00000418418.1:n.*1425G>A
ENST00000483412.5:n.2906G>A
NM_001011649.2:c.3598G>A NP_001011649.1:p.Glu1200Lys
NM_001272039.1:c.2908G>A NP_001258968.1:p.Glu970Lys
NM_018249.5:c.3598G>A NP_060719.4:p.Glu1200Lys
NR_073554.1:n.3867G>A
NR_073555.1:n.3790G>A
NR_073556.1:n.3997G>A
NR_073557.1:n.3870G>A
NR_073558.1:n.3867G>A
XM_006717182.1:c.3502G>A XP_006717245.1:p.Glu1168Lys
XM_006717185.1:c.2911G>A XP_006717248.1:p.Glu971Lys
XM_011518860.1:c.3595G>A XP_011517162.1:p.Glu1199Lys
XM_011518861.1:c.3595G>A XP_011517163.1:p.Glu1199Lys
XM_017014921.1:c.3499G>A XP_016870410.1:p.Glu1167Lys
XM_017014922.1:c.2764G>A XP_016870411.1:p.Glu922Lys
XM_017014923.1:c.2911G>A XP_016870412.1:p.Glu971Lys
XM_017014924.1:c.1393G>A XP_016870413.1:p.Glu465Lys
NM_018249.6:c.3598G>A MANE Select NP_060719.4:p.Glu1200Lys
NM_001011649.3:c.3598G>A NP_001011649.1:p.Glu1200Lys
NR_073554.2:n.3864G>A
NR_073555.2:n.3787G>A
NR_073556.2:n.3994G>A
NR_073557.2:n.3867G>A
NR_073558.2:n.3864G>A
NM_001272039.2:c.2908G>A NP_001258968.1:p.Glu970Lys