Canonical Allele Identifier: CA5213795

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs757877916
• ExAC: 9:123201757 C / T
• gnomAD v2: 9-123201757-C-T
• gnomAD v4: 9-120439479-C-T
• MyVariant Identifiers: chr9:g.123201757C>T (hg19) ; chr9:g.120439479C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439479C>T , CM000671.2:g.120439479C>T	GRCh38
NC_000009.11:g.123201757C>T , CM000671.1:g.123201757C>T	GRCh37
NC_000009.10:g.122241578C>T	NCBI36
NG_008999.1:g.145681G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2952G>A	ENSP00000354065.4:p.Gln984=
ENST00000416449.6:c.3546G>A	ENSP00000400395.2:p.Gln1182=
ENST00000479584.2:n.1889G>A
ENST00000684780.1:n.3932G>A
ENST00000685866.1:c.*1469G>A	ENSP00000509484.1:n.*1469G>A
ENST00000686376.1:c.3722G>A	ENSP00000510021.1:n.3722G>A
ENST00000686842.1:n.7196G>A
ENST00000687279.1:c.3639G>A	ENSP00000508692.1:p.Gln1213=
ENST00000687311.1:n.3605G>A
ENST00000687633.1:c.3543G>A	ENSP00000510289.1:p.Gln1181=
ENST00000688923.1:n.3014G>A
ENST00000689688.1:c.3642G>A	ENSP00000510155.1:p.Gln1214=
ENST00000690646.1:c.3546G>A	ENSP00000510383.1:p.Gln1182=
ENST00000690814.1:c.*818G>A	ENSP00000508792.1:n.*818G>A
ENST00000691504.1:n.3536G>A
ENST00000692155.1:c.3722G>A	ENSP00000510290.1:n.3722G>A
ENST00000692746.1:n.3549G>A
ENST00000693386.1:c.3546G>A	ENSP00000510003.1:p.Gln1182=
ENST00000693433.1:n.3536G>A
ENST00000693714.1:n.3589G>A
ENST00000693728.1:c.3546G>A	ENSP00000510580.1:p.Gln1182=
ENST00000349780.9:c.3642G>A MANE Select	ENSP00000343818.4:p.Gln1214=
ENST00000349780.8:c.3642G>A	ENSP00000343818.4:p.Gln1214=
ENST00000360190.8:c.3642G>A	ENSP00000353317.4:p.Gln1214=
ENST00000360822.7:c.2952G>A	ENSP00000354065.4:p.Gln984=
ENST00000416449.5:c.1824G>A	ENSP00000400395.1:p.Gln608=
ENST00000425647.1:c.672G>A	ENSP00000409941.1:p.Gln224=
ENST00000473282.6:c.*2466G>A	ENSP00000419265.1:n.*2466G>A
ENST00000480112.5:c.*1469G>A	ENSP00000418418.1:n.*1469G>A
ENST00000483412.5:n.2950G>A
NM_001011649.2:c.3642G>A	NP_001011649.1:p.Gln1214=
NM_001272039.1:c.2952G>A	NP_001258968.1:p.Gln984=
NM_018249.5:c.3642G>A	NP_060719.4:p.Gln1214=
NR_073554.1:n.3911G>A
NR_073555.1:n.3834G>A
NR_073556.1:n.4041G>A
NR_073557.1:n.3914G>A
NR_073558.1:n.3911G>A
XM_006717182.1:c.3546G>A	XP_006717245.1:p.Gln1182=
XM_006717185.1:c.2955G>A	XP_006717248.1:p.Gln985=
XM_011518860.1:c.3639G>A	XP_011517162.1:p.Gln1213=
XM_011518861.1:c.3639G>A	XP_011517163.1:p.Gln1213=
XM_017014921.1:c.3543G>A	XP_016870410.1:p.Gln1181=
XM_017014922.1:c.2808G>A	XP_016870411.1:p.Gln936=
XM_017014923.1:c.2955G>A	XP_016870412.1:p.Gln985=
XM_017014924.1:c.1437G>A	XP_016870413.1:p.Gln479=
NM_018249.6:c.3642G>A MANE Select	NP_060719.4:p.Gln1214=
NM_001011649.3:c.3642G>A	NP_001011649.1:p.Gln1214=
NR_073554.2:n.3908G>A
NR_073555.2:n.3831G>A
NR_073556.2:n.4038G>A
NR_073557.2:n.3911G>A
NR_073558.2:n.3908G>A
NM_001272039.2:c.2952G>A	NP_001258968.1:p.Gln984=