Canonical Allele Identifier: CA271207

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 158143
• ClinVar RCV Id: RCV000145476
• dbSNP Id: rs139203975
• ExAC: 9:123201720 T / A
• gnomAD v2: 9-123201720-T-A
• gnomAD v3: 9-120439442-T-A
• gnomAD v4: 9-120439442-T-A
• MyVariant Identifiers: chr9:g.123201720T>A (hg19) ; chr9:g.120439442T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439442T>A , CM000671.2:g.120439442T>A	GRCh38
NC_000009.11:g.123201720T>A , CM000671.1:g.123201720T>A	GRCh37
NC_000009.10:g.122241541T>A	NCBI36
NG_008999.1:g.145718A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2989A>T	ENSP00000354065.4:p.Ile997Phe
ENST00000416449.6:c.3583A>T	ENSP00000400395.2:p.Ile1195Phe
ENST00000479584.2:n.1926A>T
ENST00000684780.1:n.3969A>T
ENST00000685866.1:c.*1506A>T	ENSP00000509484.1:n.*1506A>T
ENST00000686376.1:c.3759A>T	ENSP00000510021.1:n.3759A>T
ENST00000686842.1:n.7233A>T
ENST00000687279.1:c.3676A>T	ENSP00000508692.1:p.Ile1226Phe
ENST00000687311.1:n.3642A>T
ENST00000687633.1:c.3580A>T	ENSP00000510289.1:p.Ile1194Phe
ENST00000688923.1:n.3051A>T
ENST00000689688.1:c.3679A>T	ENSP00000510155.1:p.Ile1227Phe
ENST00000690646.1:c.3583A>T	ENSP00000510383.1:p.Ile1195Phe
ENST00000690814.1:c.*855A>T	ENSP00000508792.1:n.*855A>T
ENST00000691504.1:n.3573A>T
ENST00000692155.1:c.3759A>T	ENSP00000510290.1:n.3759A>T
ENST00000692746.1:n.3586A>T
ENST00000693386.1:c.3583A>T	ENSP00000510003.1:p.Ile1195Phe
ENST00000693433.1:n.3573A>T
ENST00000693714.1:n.3626A>T
ENST00000693728.1:c.3583A>T	ENSP00000510580.1:p.Ile1195Phe
ENST00000349780.9:c.3679A>T MANE Select	ENSP00000343818.4:p.Ile1227Phe
ENST00000349780.8:c.3679A>T	ENSP00000343818.4:p.Ile1227Phe
ENST00000360190.8:c.3679A>T	ENSP00000353317.4:p.Ile1227Phe
ENST00000360822.7:c.2989A>T	ENSP00000354065.4:p.Ile997Phe
ENST00000416449.5:c.1861A>T	ENSP00000400395.1:p.Ile621Phe
ENST00000425647.1:c.709A>T	ENSP00000409941.1:p.Ile237Phe
ENST00000473282.6:c.*2503A>T	ENSP00000419265.1:n.*2503A>T
ENST00000480112.5:c.*1506A>T	ENSP00000418418.1:n.*1506A>T
ENST00000483412.5:n.2987A>T
NM_001011649.2:c.3679A>T	NP_001011649.1:p.Ile1227Phe
NM_001272039.1:c.2989A>T	NP_001258968.1:p.Ile997Phe
NM_018249.5:c.3679A>T	NP_060719.4:p.Ile1227Phe
NR_073554.1:n.3948A>T
NR_073555.1:n.3871A>T
NR_073556.1:n.4078A>T
NR_073557.1:n.3951A>T
NR_073558.1:n.3948A>T
XM_006717182.1:c.3583A>T	XP_006717245.1:p.Ile1195Phe
XM_006717185.1:c.2992A>T	XP_006717248.1:p.Ile998Phe
XM_011518860.1:c.3676A>T	XP_011517162.1:p.Ile1226Phe
XM_011518861.1:c.3676A>T	XP_011517163.1:p.Ile1226Phe
XM_017014921.1:c.3580A>T	XP_016870410.1:p.Ile1194Phe
XM_017014922.1:c.2845A>T	XP_016870411.1:p.Ile949Phe
XM_017014923.1:c.2992A>T	XP_016870412.1:p.Ile998Phe
XM_017014924.1:c.1474A>T	XP_016870413.1:p.Ile492Phe
NM_018249.6:c.3679A>T MANE Select	NP_060719.4:p.Ile1227Phe
NM_001011649.3:c.3679A>T	NP_001011649.1:p.Ile1227Phe
NR_073554.2:n.3945A>T
NR_073555.2:n.3868A>T
NR_073556.2:n.4075A>T
NR_073557.2:n.3948A>T
NR_073558.2:n.3945A>T
NM_001272039.2:c.2989A>T	NP_001258968.1:p.Ile997Phe