Canonical Allele Identifier: CA374720996

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs1341541965
• gnomAD v2: 9-123201722-T-A
• gnomAD v4: 9-120439444-T-A
• MyVariant Identifiers: chr9:g.123201722T>A (hg19) ; chr9:g.120439444T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439444T>A , CM000671.2:g.120439444T>A	GRCh38
NC_000009.11:g.123201722T>A , CM000671.1:g.123201722T>A	GRCh37
NC_000009.10:g.122241543T>A	NCBI36
NG_008999.1:g.145716A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2987A>T	ENSP00000354065.4:p.Glu996Val
ENST00000416449.6:c.3581A>T	ENSP00000400395.2:p.Glu1194Val
ENST00000479584.2:n.1924A>T
ENST00000684780.1:n.3967A>T
ENST00000685866.1:c.*1504A>T	ENSP00000509484.1:n.*1504A>T
ENST00000686376.1:c.3757A>T	ENSP00000510021.1:n.3757A>T
ENST00000686842.1:n.7231A>T
ENST00000687279.1:c.3674A>T	ENSP00000508692.1:p.Glu1225Val
ENST00000687311.1:n.3640A>T
ENST00000687633.1:c.3578A>T	ENSP00000510289.1:p.Glu1193Val
ENST00000688923.1:n.3049A>T
ENST00000689688.1:c.3677A>T	ENSP00000510155.1:p.Glu1226Val
ENST00000690646.1:c.3581A>T	ENSP00000510383.1:p.Glu1194Val
ENST00000690814.1:c.*853A>T	ENSP00000508792.1:n.*853A>T
ENST00000691504.1:n.3571A>T
ENST00000692155.1:c.3757A>T	ENSP00000510290.1:n.3757A>T
ENST00000692746.1:n.3584A>T
ENST00000693386.1:c.3581A>T	ENSP00000510003.1:p.Glu1194Val
ENST00000693433.1:n.3571A>T
ENST00000693714.1:n.3624A>T
ENST00000693728.1:c.3581A>T	ENSP00000510580.1:p.Glu1194Val
ENST00000349780.9:c.3677A>T MANE Select	ENSP00000343818.4:p.Glu1226Val
ENST00000349780.8:c.3677A>T	ENSP00000343818.4:p.Glu1226Val
ENST00000360190.8:c.3677A>T	ENSP00000353317.4:p.Glu1226Val
ENST00000360822.7:c.2987A>T	ENSP00000354065.4:p.Glu996Val
ENST00000416449.5:c.1859A>T	ENSP00000400395.1:p.Glu620Val
ENST00000425647.1:c.707A>T	ENSP00000409941.1:p.Glu236Val
ENST00000473282.6:c.*2501A>T	ENSP00000419265.1:n.*2501A>T
ENST00000480112.5:c.*1504A>T	ENSP00000418418.1:n.*1504A>T
ENST00000483412.5:n.2985A>T
NM_001011649.2:c.3677A>T	NP_001011649.1:p.Glu1226Val
NM_001272039.1:c.2987A>T	NP_001258968.1:p.Glu996Val
NM_018249.5:c.3677A>T	NP_060719.4:p.Glu1226Val
NR_073554.1:n.3946A>T
NR_073555.1:n.3869A>T
NR_073556.1:n.4076A>T
NR_073557.1:n.3949A>T
NR_073558.1:n.3946A>T
XM_006717182.1:c.3581A>T	XP_006717245.1:p.Glu1194Val
XM_006717185.1:c.2990A>T	XP_006717248.1:p.Glu997Val
XM_011518860.1:c.3674A>T	XP_011517162.1:p.Glu1225Val
XM_011518861.1:c.3674A>T	XP_011517163.1:p.Glu1225Val
XM_017014921.1:c.3578A>T	XP_016870410.1:p.Glu1193Val
XM_017014922.1:c.2843A>T	XP_016870411.1:p.Glu948Val
XM_017014923.1:c.2990A>T	XP_016870412.1:p.Glu997Val
XM_017014924.1:c.1472A>T	XP_016870413.1:p.Glu491Val
NM_018249.6:c.3677A>T MANE Select	NP_060719.4:p.Glu1226Val
NM_001011649.3:c.3677A>T	NP_001011649.1:p.Glu1226Val
NR_073554.2:n.3943A>T
NR_073555.2:n.3866A>T
NR_073556.2:n.4073A>T
NR_073557.2:n.3946A>T
NR_073558.2:n.3943A>T
NM_001272039.2:c.2987A>T	NP_001258968.1:p.Glu996Val