Canonical Allele Identifier: CA374704831

Gene: CDK5RAP2

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120528758C>A , CM000671.2:g.120528758C>A	GRCh38
NC_000009.11:g.123291036C>A , CM000671.1:g.123291036C>A	GRCh37
NC_000009.10:g.122330857C>A	NCBI36
NG_008999.1:g.56402G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_018249.6:c.865G>T MANE Select	NP_060719.4:p.Glu289Ter
ENST00000349780.9:c.865G>T MANE Select	ENSP00000343818.4:p.Glu289Ter
NM_001011649.2:c.865G>T	NP_001011649.1:p.Glu289Ter
NM_001011649.3:c.865G>T	NP_001011649.1:p.Glu289Ter
NM_001272039.1:c.865G>T	NP_001258968.1:p.Glu289Ter
NM_001272039.2:c.865G>T	NP_001258968.1:p.Glu289Ter
NM_018249.5:c.865G>T	NP_060719.4:p.Glu289Ter
NR_073554.1:n.1057G>T
NR_073554.2:n.1054G>T
NR_073555.1:n.1057G>T
NR_073555.2:n.1054G>T
NR_073556.1:n.1054G>T
NR_073556.2:n.1051G>T
NR_073557.1:n.1057G>T
NR_073557.2:n.1054G>T
NR_073558.1:n.1054G>T
NR_073558.2:n.1051G>T
ENST00000349780.8:c.865G>T	ENSP00000343818.4:p.Glu289Ter
ENST00000360190.8:c.865G>T	ENSP00000353317.4:p.Glu289Ter
ENST00000360822.7:c.865G>T	ENSP00000354065.4:p.Glu289Ter
ENST00000360822.8:c.865G>T	ENSP00000354065.4:p.Glu289Ter
ENST00000416449.6:c.865G>T	ENSP00000400395.2:p.Glu289Ter
ENST00000472883.1:n.275G>T
ENST00000472883.2:n.936G>T
ENST00000473282.6:c.862G>T	ENSP00000419265.1:p.Glu288Ter
ENST00000480112.5:c.862G>T	ENSP00000418418.1:p.Glu288Ter
ENST00000481266.1:c.*25G>T	ENSP00000417925.1:n.*25G>T
ENST00000481266.2:c.702G>T	ENSP00000417925.2:p.Leu234Phe
ENST00000482047.1:c.127G>T	ENSP00000419640.1:p.Glu43Ter
ENST00000483412.5:n.269G>T
ENST00000684780.1:n.924G>T
ENST00000685866.1:c.865G>T	ENSP00000509484.1:p.Glu289Ter
ENST00000686376.1:c.865G>T	ENSP00000510021.1:p.Glu289Ter
ENST00000686842.1:n.924G>T
ENST00000687024.1:c.324G>T	ENSP00000510504.1:p.Leu108Phe
ENST00000687279.1:c.865G>T	ENSP00000508692.1:p.Glu289Ter
ENST00000687311.1:n.924G>T
ENST00000687633.1:c.865G>T	ENSP00000510289.1:p.Glu289Ter
ENST00000688923.1:n.924G>T
ENST00000689688.1:c.865G>T	ENSP00000510155.1:p.Glu289Ter
ENST00000690474.1:n.910G>T
ENST00000690646.1:c.865G>T	ENSP00000510383.1:p.Glu289Ter
ENST00000690814.1:c.862G>T	ENSP00000508792.1:p.Glu288Ter
ENST00000691504.1:n.855G>T
ENST00000692155.1:c.865G>T	ENSP00000510290.1:p.Glu289Ter
ENST00000692746.1:n.924G>T
ENST00000693137.1:n.912G>T
ENST00000693386.1:c.865G>T	ENSP00000510003.1:p.Glu289Ter
ENST00000693433.1:n.855G>T
ENST00000693702.1:n.924G>T
ENST00000693714.1:n.908G>T
ENST00000693728.1:c.865G>T	ENSP00000510580.1:p.Glu289Ter
XM_006717182.1:c.865G>T	XP_006717245.1:p.Glu289Ter
XM_006717185.1:c.865G>T	XP_006717248.1:p.Glu289Ter
XM_011518860.1:c.865G>T	XP_011517162.1:p.Glu289Ter
XM_011518861.1:c.862G>T	XP_011517163.1:p.Glu288Ter
XM_017014921.1:c.865G>T	XP_016870410.1:p.Glu289Ter
XM_017014922.1:c.31G>T	XP_016870411.1:p.Glu11Ter
XM_017014923.1:c.865G>T	XP_016870412.1:p.Glu289Ter
XR_001746351.1:n.1046G>T