Canonical Allele Identifier: CA10626333
Gene: CDK5RAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 364750
ClinVar RCV Id: RCV000407883
dbSNP Id: rs886063390

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120402946T>C , CM000671.2:g.120402946T>C GRCh38
NC_000009.11:g.123165224T>C , CM000671.1:g.123165224T>C GRCh37
NC_000009.10:g.122205045T>C NCBI36
NG_008999.1:g.182214A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.4477A>G ENSP00000354065.4:p.Asn1493Asp
ENST00000416449.6:c.5071A>G ENSP00000400395.2:p.Asn1691Asp
ENST00000479584.2:n.3414A>G
ENST00000684780.1:n.5457A>G
ENST00000685866.1:c.*2992A>G ENSP00000509484.1:n.*2992A>G
ENST00000686376.1:c.5010A>G ENSP00000510021.1:n.5010A>G
ENST00000686842.1:n.8721A>G
ENST00000687279.1:c.5164A>G ENSP00000508692.1:p.Asn1722Asp
ENST00000687311.1:n.5130A>G
ENST00000687633.1:c.5068A>G ENSP00000510289.1:p.Asn1690Asp
ENST00000688512.1:c.775A>G ENSP00000508546.1:p.Asn259Asp
ENST00000688923.1:n.4302A>G
ENST00000689012.1:n.1555A>G
ENST00000689688.1:c.*230A>G ENSP00000510155.1:n.*230A>G
ENST00000690646.1:c.4993A>G ENSP00000510383.1:p.Asn1665Asp
ENST00000690814.1:c.*2343A>G ENSP00000508792.1:n.*2343A>G
ENST00000691504.1:n.6023A>G
ENST00000691551.1:c.1336A>G
ENST00000692155.1:c.5010A>G ENSP00000510290.1:n.5010A>G
ENST00000692746.1:n.4837A>G
ENST00000693386.1:c.5012A>G ENSP00000510003.1:n.5012A>G
ENST00000693433.1:n.8923A>G
ENST00000693714.1:n.5114A>G
ENST00000693728.1:c.5071A>G ENSP00000510580.1:p.Asn1691Asp
ENST00000349780.9:c.5167A>G MANE Select ENSP00000343818.4:p.Asn1723Asp
ENST00000349780.8:c.5167A>G ENSP00000343818.4:p.Asn1723Asp
ENST00000360190.8:c.4930A>G ENSP00000353317.4:p.Asn1644Asp
ENST00000360822.7:c.4477A>G ENSP00000354065.4:p.Asn1493Asp
ENST00000416449.5:c.3349A>G ENSP00000400395.1:p.Asn1117Asp
ENST00000425647.1:c.2197A>G ENSP00000409941.1:p.Asn733Asp
ENST00000433194.6:n.263A>G
ENST00000473282.6:c.*3991A>G ENSP00000419265.1:n.*3991A>G
ENST00000480112.5:c.*2994A>G ENSP00000418418.1:n.*2994A>G
ENST00000480467.5:n.379A>G
ENST00000484546.1:n.717A>G
NM_001011649.2:c.4930A>G NP_001011649.1:p.Asn1644Asp
NM_001272039.1:c.4477A>G NP_001258968.1:p.Asn1493Asp
NM_018249.5:c.5167A>G NP_060719.4:p.Asn1723Asp
NR_073554.1:n.5434A>G
NR_073555.1:n.5357A>G
NR_073556.1:n.5566A>G
NR_073557.1:n.5439A>G
NR_073558.1:n.5436A>G
XM_006717182.1:c.5071A>G XP_006717245.1:p.Asn1691Asp
XM_006717185.1:c.4480A>G XP_006717248.1:p.Asn1494Asp
XM_011518860.1:c.5164A>G XP_011517162.1:p.Asn1722Asp
XM_011518861.1:c.5164A>G XP_011517163.1:p.Asn1722Asp
XM_017014921.1:c.5068A>G XP_016870410.1:p.Asn1690Asp
XM_017014922.1:c.4333A>G XP_016870411.1:p.Asn1445Asp
XM_017014923.1:c.4243A>G XP_016870412.1:p.Asn1415Asp
XM_017014924.1:c.2725A>G XP_016870413.1:p.Asn909Asp
NM_018249.6:c.5167A>G MANE Select NP_060719.4:p.Asn1723Asp
NM_001011649.3:c.4930A>G NP_001011649.1:p.Asn1644Asp
NR_073554.2:n.5431A>G
NR_073555.2:n.5354A>G
NR_073556.2:n.5563A>G
NR_073557.2:n.5436A>G
NR_073558.2:n.5433A>G
NM_001272039.2:c.4477A>G NP_001258968.1:p.Asn1493Asp