Canonical Allele Identifier: CA271241

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 158169
• ClinVar RCV Id: RCV000145505 ; RCV002514804 ; RCV002055876
• dbSNP Id: rs369568564
• ExAC: 9:123298738 G / A
• gnomAD v2: 9-123298738-G-A
• gnomAD v3: 9-120536460-G-A
• gnomAD v4: 9-120536460-G-A
• MyVariant Identifiers: chr9:g.123298738G>A (hg19) ; chr9:g.120536460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120536460G>A , CM000671.2:g.120536460G>A	GRCh38
NC_000009.11:g.123298738G>A , CM000671.1:g.123298738G>A	GRCh37
NC_000009.10:g.122338559G>A	NCBI36
NG_008999.1:g.48700C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.574C>T	ENSP00000354065.4:p.Arg192Trp
ENST00000416449.6:c.574C>T	ENSP00000400395.2:p.Arg192Trp
ENST00000472883.2:n.657C>T
ENST00000481266.2:c.574C>T	ENSP00000417925.2:p.Arg192Trp
ENST00000684780.1:n.633C>T
ENST00000685866.1:c.574C>T	ENSP00000509484.1:p.Arg192Trp
ENST00000686376.1:c.574C>T	ENSP00000510021.1:p.Arg192Trp
ENST00000686842.1:n.633C>T
ENST00000687279.1:c.574C>T	ENSP00000508692.1:p.Arg192Trp
ENST00000687311.1:n.633C>T
ENST00000687633.1:c.574C>T	ENSP00000510289.1:p.Arg192Trp
ENST00000688923.1:n.633C>T
ENST00000689688.1:c.574C>T	ENSP00000510155.1:p.Arg192Trp
ENST00000690474.1:n.619C>T
ENST00000690646.1:c.574C>T	ENSP00000510383.1:p.Arg192Trp
ENST00000690814.1:c.571C>T	ENSP00000508792.1:p.Arg191Trp
ENST00000691504.1:n.564C>T
ENST00000692155.1:c.574C>T	ENSP00000510290.1:p.Arg192Trp
ENST00000692746.1:n.633C>T
ENST00000693137.1:n.621C>T
ENST00000693386.1:c.574C>T	ENSP00000510003.1:p.Arg192Trp
ENST00000693433.1:n.564C>T
ENST00000693702.1:n.633C>T
ENST00000693714.1:n.617C>T
ENST00000693728.1:c.574C>T	ENSP00000510580.1:p.Arg192Trp
ENST00000349780.9:c.574C>T MANE Select	ENSP00000343818.4:p.Arg192Trp
ENST00000349780.8:c.574C>T	ENSP00000343818.4:p.Arg192Trp
ENST00000360190.8:c.574C>T	ENSP00000353317.4:p.Arg192Trp
ENST00000360822.7:c.574C>T	ENSP00000354065.4:p.Arg192Trp
ENST00000472883.1:n.147C>T
ENST00000473282.6:c.571C>T	ENSP00000419265.1:p.Arg191Trp
ENST00000480112.5:c.571C>T	ENSP00000418418.1:p.Arg191Trp
ENST00000481266.1:c.574C>T	ENSP00000417925.1:p.Arg192Trp
NM_001011649.2:c.574C>T	NP_001011649.1:p.Arg192Trp
NM_001272039.1:c.574C>T	NP_001258968.1:p.Arg192Trp
NM_018249.5:c.574C>T	NP_060719.4:p.Arg192Trp
NR_073554.1:n.766C>T
NR_073555.1:n.766C>T
NR_073556.1:n.763C>T
NR_073557.1:n.766C>T
NR_073558.1:n.763C>T
XM_006717182.1:c.574C>T	XP_006717245.1:p.Arg192Trp
XM_006717185.1:c.574C>T	XP_006717248.1:p.Arg192Trp
XM_011518860.1:c.574C>T	XP_011517162.1:p.Arg192Trp
XM_011518861.1:c.571C>T	XP_011517163.1:p.Arg191Trp
XM_017014921.1:c.574C>T	XP_016870410.1:p.Arg192Trp
XM_017014922.1:c.-98C>T	XP_016870411.1:n.-98C>T
XM_017014923.1:c.574C>T	XP_016870412.1:p.Arg192Trp
XR_001746351.1:n.755C>T
NM_018249.6:c.574C>T MANE Select	NP_060719.4:p.Arg192Trp
NM_001011649.3:c.574C>T	NP_001011649.1:p.Arg192Trp
NR_073554.2:n.763C>T
NR_073555.2:n.763C>T
NR_073556.2:n.760C>T
NR_073557.2:n.763C>T
NR_073558.2:n.760C>T
NM_001272039.2:c.574C>T	NP_001258968.1:p.Arg192Trp