Canonical Allele Identifier: CA5213798

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 2801996
• ClinVar RCV Id: RCV003676437
• dbSNP Id: rs756609418
• ExAC: 9:123201769 T / C
• gnomAD v2: 9-123201769-T-C
• gnomAD v4: 9-120439491-T-C
• MyVariant Identifiers: chr9:g.123201769T>C (hg19) ; chr9:g.120439491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439491T>C , CM000671.2:g.120439491T>C	GRCh38
NC_000009.11:g.123201769T>C , CM000671.1:g.123201769T>C	GRCh37
NC_000009.10:g.122241590T>C	NCBI36
NG_008999.1:g.145669A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2940A>G	ENSP00000354065.4:p.Glu980=
ENST00000416449.6:c.3534A>G	ENSP00000400395.2:p.Glu1178=
ENST00000479584.2:n.1877A>G
ENST00000684780.1:n.3920A>G
ENST00000685866.1:c.*1457A>G	ENSP00000509484.1:n.*1457A>G
ENST00000686376.1:c.3710A>G	ENSP00000510021.1:n.3710A>G
ENST00000686842.1:n.7184A>G
ENST00000687279.1:c.3627A>G	ENSP00000508692.1:p.Glu1209=
ENST00000687311.1:n.3593A>G
ENST00000687633.1:c.3531A>G	ENSP00000510289.1:p.Glu1177=
ENST00000688923.1:n.3002A>G
ENST00000689688.1:c.3630A>G	ENSP00000510155.1:p.Glu1210=
ENST00000690646.1:c.3534A>G	ENSP00000510383.1:p.Glu1178=
ENST00000690814.1:c.*806A>G	ENSP00000508792.1:n.*806A>G
ENST00000691504.1:n.3524A>G
ENST00000692155.1:c.3710A>G	ENSP00000510290.1:n.3710A>G
ENST00000692746.1:n.3537A>G
ENST00000693386.1:c.3534A>G	ENSP00000510003.1:p.Glu1178=
ENST00000693433.1:n.3524A>G
ENST00000693714.1:n.3577A>G
ENST00000693728.1:c.3534A>G	ENSP00000510580.1:p.Glu1178=
ENST00000349780.9:c.3630A>G MANE Select	ENSP00000343818.4:p.Glu1210=
ENST00000349780.8:c.3630A>G	ENSP00000343818.4:p.Glu1210=
ENST00000360190.8:c.3630A>G	ENSP00000353317.4:p.Glu1210=
ENST00000360822.7:c.2940A>G	ENSP00000354065.4:p.Glu980=
ENST00000416449.5:c.1812A>G	ENSP00000400395.1:p.Glu604=
ENST00000425647.1:c.660A>G	ENSP00000409941.1:p.Glu220=
ENST00000473282.6:c.*2454A>G	ENSP00000419265.1:n.*2454A>G
ENST00000480112.5:c.*1457A>G	ENSP00000418418.1:n.*1457A>G
ENST00000483412.5:n.2938A>G
NM_001011649.2:c.3630A>G	NP_001011649.1:p.Glu1210=
NM_001272039.1:c.2940A>G	NP_001258968.1:p.Glu980=
NM_018249.5:c.3630A>G	NP_060719.4:p.Glu1210=
NR_073554.1:n.3899A>G
NR_073555.1:n.3822A>G
NR_073556.1:n.4029A>G
NR_073557.1:n.3902A>G
NR_073558.1:n.3899A>G
XM_006717182.1:c.3534A>G	XP_006717245.1:p.Glu1178=
XM_006717185.1:c.2943A>G	XP_006717248.1:p.Glu981=
XM_011518860.1:c.3627A>G	XP_011517162.1:p.Glu1209=
XM_011518861.1:c.3627A>G	XP_011517163.1:p.Glu1209=
XM_017014921.1:c.3531A>G	XP_016870410.1:p.Glu1177=
XM_017014922.1:c.2796A>G	XP_016870411.1:p.Glu932=
XM_017014923.1:c.2943A>G	XP_016870412.1:p.Glu981=
XM_017014924.1:c.1425A>G	XP_016870413.1:p.Glu475=
NM_018249.6:c.3630A>G MANE Select	NP_060719.4:p.Glu1210=
NM_001011649.3:c.3630A>G	NP_001011649.1:p.Glu1210=
NR_073554.2:n.3896A>G
NR_073555.2:n.3819A>G
NR_073556.2:n.4026A>G
NR_073557.2:n.3899A>G
NR_073558.2:n.3896A>G
NM_001272039.2:c.2940A>G	NP_001258968.1:p.Glu980=