Canonical Allele Identifier: CA271209

Gene: CDK5RAP2

Linked Data

• ClinVar Variation Id: 158144
• ClinVar RCV Id: RCV000145477 ; RCV002514802
• dbSNP Id: rs148403620
• ExAC: 9:123201713 T / C
• gnomAD v2: 9-123201713-T-C
• gnomAD v3: 9-120439435-T-C
• gnomAD v4: 9-120439435-T-C
• MyVariant Identifiers: chr9:g.123201713T>C (hg19) ; chr9:g.120439435T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439435T>C , CM000671.2:g.120439435T>C	GRCh38
NC_000009.11:g.123201713T>C , CM000671.1:g.123201713T>C	GRCh37
NC_000009.10:g.122241534T>C	NCBI36
NG_008999.1:g.145725A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2996A>G	ENSP00000354065.4:p.Asn999Ser
ENST00000416449.6:c.3590A>G	ENSP00000400395.2:p.Asn1197Ser
ENST00000479584.2:n.1933A>G
ENST00000684780.1:n.3976A>G
ENST00000685866.1:c.*1513A>G	ENSP00000509484.1:n.*1513A>G
ENST00000686376.1:c.3766A>G	ENSP00000510021.1:n.3766A>G
ENST00000686842.1:n.7240A>G
ENST00000687279.1:c.3683A>G	ENSP00000508692.1:p.Asn1228Ser
ENST00000687311.1:n.3649A>G
ENST00000687633.1:c.3587A>G	ENSP00000510289.1:p.Asn1196Ser
ENST00000688923.1:n.3058A>G
ENST00000689688.1:c.3686A>G	ENSP00000510155.1:p.Asn1229Ser
ENST00000690646.1:c.3590A>G	ENSP00000510383.1:p.Asn1197Ser
ENST00000690814.1:c.*862A>G	ENSP00000508792.1:n.*862A>G
ENST00000691504.1:n.3580A>G
ENST00000692155.1:c.3766A>G	ENSP00000510290.1:n.3766A>G
ENST00000692746.1:n.3593A>G
ENST00000693386.1:c.3590A>G	ENSP00000510003.1:p.Asn1197Ser
ENST00000693433.1:n.3580A>G
ENST00000693714.1:n.3633A>G
ENST00000693728.1:c.3590A>G	ENSP00000510580.1:p.Asn1197Ser
ENST00000349780.9:c.3686A>G MANE Select	ENSP00000343818.4:p.Asn1229Ser
ENST00000349780.8:c.3686A>G	ENSP00000343818.4:p.Asn1229Ser
ENST00000360190.8:c.3686A>G	ENSP00000353317.4:p.Asn1229Ser
ENST00000360822.7:c.2996A>G	ENSP00000354065.4:p.Asn999Ser
ENST00000416449.5:c.1868A>G	ENSP00000400395.1:p.Asn623Ser
ENST00000425647.1:c.716A>G	ENSP00000409941.1:p.Asn239Ser
ENST00000473282.6:c.*2510A>G	ENSP00000419265.1:n.*2510A>G
ENST00000480112.5:c.*1513A>G	ENSP00000418418.1:n.*1513A>G
ENST00000483412.5:n.2994A>G
NM_001011649.2:c.3686A>G	NP_001011649.1:p.Asn1229Ser
NM_001272039.1:c.2996A>G	NP_001258968.1:p.Asn999Ser
NM_018249.5:c.3686A>G	NP_060719.4:p.Asn1229Ser
NR_073554.1:n.3955A>G
NR_073555.1:n.3878A>G
NR_073556.1:n.4085A>G
NR_073557.1:n.3958A>G
NR_073558.1:n.3955A>G
XM_006717182.1:c.3590A>G	XP_006717245.1:p.Asn1197Ser
XM_006717185.1:c.2999A>G	XP_006717248.1:p.Asn1000Ser
XM_011518860.1:c.3683A>G	XP_011517162.1:p.Asn1228Ser
XM_011518861.1:c.3683A>G	XP_011517163.1:p.Asn1228Ser
XM_017014921.1:c.3587A>G	XP_016870410.1:p.Asn1196Ser
XM_017014922.1:c.2852A>G	XP_016870411.1:p.Asn951Ser
XM_017014923.1:c.2999A>G	XP_016870412.1:p.Asn1000Ser
XM_017014924.1:c.1481A>G	XP_016870413.1:p.Asn494Ser
NM_018249.6:c.3686A>G MANE Select	NP_060719.4:p.Asn1229Ser
NM_001011649.3:c.3686A>G	NP_001011649.1:p.Asn1229Ser
NR_073554.2:n.3952A>G
NR_073555.2:n.3875A>G
NR_073556.2:n.4082A>G
NR_073557.2:n.3955A>G
NR_073558.2:n.3952A>G
NM_001272039.2:c.2996A>G	NP_001258968.1:p.Asn999Ser