Canonical Allele Identifier: CA467070838
Gene: CDK5RAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123201712A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439434A>G , CM000671.2:g.120439434A>G GRCh38
NC_000009.11:g.123201712A>G , CM000671.1:g.123201712A>G GRCh37
NC_000009.10:g.122241533A>G NCBI36
NG_008999.1:g.145726T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2997T>C ENSP00000354065.4:p.Asn999=
ENST00000416449.6:c.3591T>C ENSP00000400395.2:p.Asn1197=
ENST00000479584.2:n.1934T>C
ENST00000684780.1:n.3977T>C
ENST00000685866.1:c.*1514T>C ENSP00000509484.1:n.*1514T>C
ENST00000686376.1:c.3767T>C ENSP00000510021.1:n.3767T>C
ENST00000686842.1:n.7241T>C
ENST00000687279.1:c.3684T>C ENSP00000508692.1:p.Asn1228=
ENST00000687311.1:n.3650T>C
ENST00000687633.1:c.3588T>C ENSP00000510289.1:p.Asn1196=
ENST00000688923.1:n.3059T>C
ENST00000689688.1:c.3687T>C ENSP00000510155.1:p.Asn1229=
ENST00000690646.1:c.3591T>C ENSP00000510383.1:p.Asn1197=
ENST00000690814.1:c.*863T>C ENSP00000508792.1:n.*863T>C
ENST00000691504.1:n.3581T>C
ENST00000692155.1:c.3767T>C ENSP00000510290.1:n.3767T>C
ENST00000692746.1:n.3594T>C
ENST00000693386.1:c.3591T>C ENSP00000510003.1:p.Asn1197=
ENST00000693433.1:n.3581T>C
ENST00000693714.1:n.3634T>C
ENST00000693728.1:c.3591T>C ENSP00000510580.1:p.Asn1197=
ENST00000349780.9:c.3687T>C MANE Select ENSP00000343818.4:p.Asn1229=
ENST00000349780.8:c.3687T>C ENSP00000343818.4:p.Asn1229=
ENST00000360190.8:c.3687T>C ENSP00000353317.4:p.Asn1229=
ENST00000360822.7:c.2997T>C ENSP00000354065.4:p.Asn999=
ENST00000416449.5:c.1869T>C ENSP00000400395.1:p.Asn623=
ENST00000425647.1:c.717T>C ENSP00000409941.1:p.Asn239=
ENST00000473282.6:c.*2511T>C ENSP00000419265.1:n.*2511T>C
ENST00000480112.5:c.*1514T>C ENSP00000418418.1:n.*1514T>C
ENST00000483412.5:n.2995T>C
NM_001011649.2:c.3687T>C NP_001011649.1:p.Asn1229=
NM_001272039.1:c.2997T>C NP_001258968.1:p.Asn999=
NM_018249.5:c.3687T>C NP_060719.4:p.Asn1229=
NR_073554.1:n.3956T>C
NR_073555.1:n.3879T>C
NR_073556.1:n.4086T>C
NR_073557.1:n.3959T>C
NR_073558.1:n.3956T>C
XM_006717182.1:c.3591T>C XP_006717245.1:p.Asn1197=
XM_006717185.1:c.3000T>C XP_006717248.1:p.Asn1000=
XM_011518860.1:c.3684T>C XP_011517162.1:p.Asn1228=
XM_011518861.1:c.3684T>C XP_011517163.1:p.Asn1228=
XM_017014921.1:c.3588T>C XP_016870410.1:p.Asn1196=
XM_017014922.1:c.2853T>C XP_016870411.1:p.Asn951=
XM_017014923.1:c.3000T>C XP_016870412.1:p.Asn1000=
XM_017014924.1:c.1482T>C XP_016870413.1:p.Asn494=
NM_018249.6:c.3687T>C MANE Select NP_060719.4:p.Asn1229=
NM_001011649.3:c.3687T>C NP_001011649.1:p.Asn1229=
NR_073554.2:n.3953T>C
NR_073555.2:n.3876T>C
NR_073556.2:n.4083T>C
NR_073557.2:n.3956T>C
NR_073558.2:n.3953T>C
NM_001272039.2:c.2997T>C NP_001258968.1:p.Asn999=