Canonical Allele Identifier: CA5213335

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 422548
• ClinVar RCV Id: RCV000483274
• dbSNP Id: rs754398195
• ExAC: 9:123165169 A / G
• gnomAD v2: 9-123165169-A-G
• gnomAD v3: 9-120402891-A-G
• gnomAD v4: 9-120402891-A-G
• MyVariant Identifiers: chr9:g.123165169A>G (hg19) ; chr9:g.120402891A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120402891A>G , CM000671.2:g.120402891A>G	GRCh38
NC_000009.11:g.123165169A>G , CM000671.1:g.123165169A>G	GRCh37
NC_000009.10:g.122204990A>G	NCBI36
NG_008999.1:g.182269T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000360822.8:c.4532T>C	ENSP00000354065.4:p.Ile1511Thr
ENST00000416449.6:c.5126T>C	ENSP00000400395.2:p.Ile1709Thr
ENST00000479584.2:n.3469T>C
ENST00000684780.1:n.5512T>C
ENST00000685866.1:c.*3047T>C	ENSP00000509484.1:n.*3047T>C
ENST00000686376.1:c.5065T>C	ENSP00000510021.1:n.5065T>C
ENST00000686842.1:n.8776T>C
ENST00000687279.1:c.5219T>C	ENSP00000508692.1:p.Ile1740Thr
ENST00000687311.1:n.5185T>C
ENST00000687633.1:c.5123T>C	ENSP00000510289.1:p.Ile1708Thr
ENST00000688512.1:c.830T>C	ENSP00000508546.1:p.Ile277Thr
ENST00000688923.1:n.4357T>C
ENST00000689012.1:n.1610T>C
ENST00000689688.1:c.*285T>C	ENSP00000510155.1:n.*285T>C
ENST00000690646.1:c.5048T>C	ENSP00000510383.1:p.Ile1683Thr
ENST00000690814.1:c.*2398T>C	ENSP00000508792.1:n.*2398T>C
ENST00000691504.1:n.6078T>C
ENST00000691551.1:c.1391T>C
ENST00000692155.1:c.5065T>C	ENSP00000510290.1:n.5065T>C
ENST00000692746.1:n.4892T>C
ENST00000693386.1:c.5067T>C	ENSP00000510003.1:n.5067T>C
ENST00000693433.1:n.8978T>C
ENST00000693714.1:n.5169T>C
ENST00000693728.1:c.5126T>C	ENSP00000510580.1:p.Ile1709Thr
ENST00000349780.9:c.5222T>C MANE Select	ENSP00000343818.4:p.Ile1741Thr
ENST00000349780.8:c.5222T>C	ENSP00000343818.4:p.Ile1741Thr
ENST00000360190.8:c.4985T>C	ENSP00000353317.4:p.Ile1662Thr
ENST00000360822.7:c.4532T>C	ENSP00000354065.4:p.Ile1511Thr
ENST00000416449.5:c.3404T>C	ENSP00000400395.1:p.Ile1135Thr
ENST00000425647.1:c.2252T>C	ENSP00000409941.1:p.Ile751Thr
ENST00000433194.6:n.318T>C
ENST00000473282.6:c.*4046T>C	ENSP00000419265.1:n.*4046T>C
ENST00000480112.5:c.*3049T>C	ENSP00000418418.1:n.*3049T>C
ENST00000480467.5:n.434T>C
ENST00000484546.1:n.772T>C
NM_001011649.2:c.4985T>C	NP_001011649.1:p.Ile1662Thr
NM_001272039.1:c.4532T>C	NP_001258968.1:p.Ile1511Thr
NM_018249.5:c.5222T>C	NP_060719.4:p.Ile1741Thr
NR_073554.1:n.5489T>C
NR_073555.1:n.5412T>C
NR_073556.1:n.5621T>C
NR_073557.1:n.5494T>C
NR_073558.1:n.5491T>C
XM_006717182.1:c.5126T>C	XP_006717245.1:p.Ile1709Thr
XM_006717185.1:c.4535T>C	XP_006717248.1:p.Ile1512Thr
XM_011518860.1:c.5219T>C	XP_011517162.1:p.Ile1740Thr
XM_011518861.1:c.5219T>C	XP_011517163.1:p.Ile1740Thr
XM_017014921.1:c.5123T>C	XP_016870410.1:p.Ile1708Thr
XM_017014922.1:c.4388T>C	XP_016870411.1:p.Ile1463Thr
XM_017014923.1:c.4298T>C	XP_016870412.1:p.Ile1433Thr
XM_017014924.1:c.2780T>C	XP_016870413.1:p.Ile927Thr
NM_018249.6:c.5222T>C MANE Select	NP_060719.4:p.Ile1741Thr
NM_001011649.3:c.4985T>C	NP_001011649.1:p.Ile1662Thr
NR_073554.2:n.5486T>C
NR_073555.2:n.5409T>C
NR_073556.2:n.5618T>C
NR_073557.2:n.5491T>C
NR_073558.2:n.5488T>C
NM_001272039.2:c.4532T>C	NP_001258968.1:p.Ile1511Thr