Canonical Allele Identifier: CA342318
Gene: CDK5RAP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2488
ClinVar RCV Id: RCV000002594
dbSNP Id: rs199422126

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120550852A>T , CM000671.2:g.120550852A>T GRCh38
NC_000009.11:g.123313130A>T , CM000671.1:g.123313130A>T GRCh37
NC_000009.10:g.122352951A>T NCBI36
NG_008999.1:g.34308T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000360822.8:c.246T>A ENSP00000354065.4:p.Tyr82Ter
ENST00000416449.6:c.246T>A ENSP00000400395.2:p.Tyr82Ter
ENST00000472883.2:n.329T>A
ENST00000481266.2:c.246T>A ENSP00000417925.2:p.Tyr82Ter
ENST00000684780.1:n.305T>A
ENST00000685866.1:c.246T>A ENSP00000509484.1:p.Tyr82Ter
ENST00000686376.1:c.246T>A ENSP00000510021.1:p.Tyr82Ter
ENST00000686842.1:n.305T>A
ENST00000687279.1:c.246T>A ENSP00000508692.1:p.Tyr82Ter
ENST00000687311.1:n.305T>A
ENST00000687633.1:c.246T>A ENSP00000510289.1:p.Tyr82Ter
ENST00000688923.1:n.305T>A
ENST00000689688.1:c.246T>A ENSP00000510155.1:p.Tyr82Ter
ENST00000690474.1:n.291T>A
ENST00000690646.1:c.246T>A ENSP00000510383.1:p.Tyr82Ter
ENST00000690814.1:c.243T>A ENSP00000508792.1:p.Tyr81Ter
ENST00000691504.1:n.236T>A
ENST00000692155.1:c.246T>A ENSP00000510290.1:p.Tyr82Ter
ENST00000692746.1:n.305T>A
ENST00000693137.1:n.293T>A
ENST00000693386.1:c.246T>A ENSP00000510003.1:p.Tyr82Ter
ENST00000693433.1:n.236T>A
ENST00000693702.1:n.305T>A
ENST00000693714.1:n.289T>A
ENST00000693728.1:c.246T>A ENSP00000510580.1:p.Tyr82Ter
ENST00000349780.9:c.246T>A MANE Select ENSP00000343818.4:p.Tyr82Ter
ENST00000349780.8:c.246T>A ENSP00000343818.4:p.Tyr82Ter
ENST00000360190.8:c.246T>A ENSP00000353317.4:p.Tyr82Ter
ENST00000360822.7:c.246T>A ENSP00000354065.4:p.Tyr82Ter
ENST00000473282.6:c.243T>A ENSP00000419265.1:p.Tyr81Ter
ENST00000480112.5:c.243T>A ENSP00000418418.1:p.Tyr81Ter
ENST00000481266.1:c.246T>A ENSP00000417925.1:p.Tyr82Ter
NM_001011649.2:c.246T>A NP_001011649.1:p.Tyr82Ter
NM_001272039.1:c.246T>A NP_001258968.1:p.Tyr82Ter
NM_018249.5:c.246T>A NP_060719.4:p.Tyr82Ter
NR_073554.1:n.438T>A
NR_073555.1:n.438T>A
NR_073556.1:n.435T>A
NR_073557.1:n.438T>A
NR_073558.1:n.435T>A
XM_006717182.1:c.246T>A XP_006717245.1:p.Tyr82Ter
XM_006717185.1:c.246T>A XP_006717248.1:p.Tyr82Ter
XM_011518860.1:c.246T>A XP_011517162.1:p.Tyr82Ter
XM_011518861.1:c.243T>A XP_011517163.1:p.Tyr81Ter
XM_017014921.1:c.246T>A XP_016870410.1:p.Tyr82Ter
XM_017014923.1:c.246T>A XP_016870412.1:p.Tyr82Ter
XR_001746351.1:n.427T>A
NM_018249.6:c.246T>A MANE Select NP_060719.4:p.Tyr82Ter
NM_001011649.3:c.246T>A NP_001011649.1:p.Tyr82Ter
NR_073554.2:n.435T>A
NR_073555.2:n.435T>A
NR_073556.2:n.432T>A
NR_073557.2:n.435T>A
NR_073558.2:n.432T>A
NM_001272039.2:c.246T>A NP_001258968.1:p.Tyr82Ter