Canonical Allele Identifier: CA374721157

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 2412804
• ClinVar RCV Id: RCV003108237
• MyVariant Identifiers: chr9:g.123201789G>A (hg19) ; chr9:g.120439511G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439511G>A , CM000671.2:g.120439511G>A	GRCh38
NC_000009.11:g.123201789G>A , CM000671.1:g.123201789G>A	GRCh37
NC_000009.10:g.122241610G>A	NCBI36
NG_008999.1:g.145649C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2920C>T	ENSP00000354065.4:p.Gln974Ter
ENST00000416449.6:c.3514C>T	ENSP00000400395.2:p.Gln1172Ter
ENST00000479584.2:n.1857C>T
ENST00000684780.1:n.3900C>T
ENST00000685866.1:c.*1437C>T	ENSP00000509484.1:n.*1437C>T
ENST00000686376.1:c.3690C>T	ENSP00000510021.1:n.3690C>T
ENST00000686842.1:n.7164C>T
ENST00000687279.1:c.3607C>T	ENSP00000508692.1:p.Gln1203Ter
ENST00000687311.1:n.3573C>T
ENST00000687633.1:c.3511C>T	ENSP00000510289.1:p.Gln1171Ter
ENST00000688923.1:n.2982C>T
ENST00000689688.1:c.3610C>T	ENSP00000510155.1:p.Gln1204Ter
ENST00000690646.1:c.3514C>T	ENSP00000510383.1:p.Gln1172Ter
ENST00000690814.1:c.*786C>T	ENSP00000508792.1:n.*786C>T
ENST00000691504.1:n.3504C>T
ENST00000692155.1:c.3690C>T	ENSP00000510290.1:n.3690C>T
ENST00000692746.1:n.3517C>T
ENST00000693386.1:c.3514C>T	ENSP00000510003.1:p.Gln1172Ter
ENST00000693433.1:n.3504C>T
ENST00000693714.1:n.3557C>T
ENST00000693728.1:c.3514C>T	ENSP00000510580.1:p.Gln1172Ter
ENST00000349780.9:c.3610C>T MANE Select	ENSP00000343818.4:p.Gln1204Ter
ENST00000349780.8:c.3610C>T	ENSP00000343818.4:p.Gln1204Ter
ENST00000360190.8:c.3610C>T	ENSP00000353317.4:p.Gln1204Ter
ENST00000360822.7:c.2920C>T	ENSP00000354065.4:p.Gln974Ter
ENST00000416449.5:c.1792C>T	ENSP00000400395.1:p.Gln598Ter
ENST00000425647.1:c.640C>T	ENSP00000409941.1:p.Gln214Ter
ENST00000473282.6:c.*2434C>T	ENSP00000419265.1:n.*2434C>T
ENST00000480112.5:c.*1437C>T	ENSP00000418418.1:n.*1437C>T
ENST00000483412.5:n.2918C>T
NM_001011649.2:c.3610C>T	NP_001011649.1:p.Gln1204Ter
NM_001272039.1:c.2920C>T	NP_001258968.1:p.Gln974Ter
NM_018249.5:c.3610C>T	NP_060719.4:p.Gln1204Ter
NR_073554.1:n.3879C>T
NR_073555.1:n.3802C>T
NR_073556.1:n.4009C>T
NR_073557.1:n.3882C>T
NR_073558.1:n.3879C>T
XM_006717182.1:c.3514C>T	XP_006717245.1:p.Gln1172Ter
XM_006717185.1:c.2923C>T	XP_006717248.1:p.Gln975Ter
XM_011518860.1:c.3607C>T	XP_011517162.1:p.Gln1203Ter
XM_011518861.1:c.3607C>T	XP_011517163.1:p.Gln1203Ter
XM_017014921.1:c.3511C>T	XP_016870410.1:p.Gln1171Ter
XM_017014922.1:c.2776C>T	XP_016870411.1:p.Gln926Ter
XM_017014923.1:c.2923C>T	XP_016870412.1:p.Gln975Ter
XM_017014924.1:c.1405C>T	XP_016870413.1:p.Gln469Ter
NM_018249.6:c.3610C>T MANE Select	NP_060719.4:p.Gln1204Ter
NM_001011649.3:c.3610C>T	NP_001011649.1:p.Gln1204Ter
NR_073554.2:n.3876C>T
NR_073555.2:n.3799C>T
NR_073556.2:n.4006C>T
NR_073557.2:n.3879C>T
NR_073558.2:n.3876C>T
NM_001272039.2:c.2920C>T	NP_001258968.1:p.Gln974Ter