Canonical Allele Identifier: CA374721061

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs2035772204
• MyVariant Identifiers: chr9:g.123201748C>G (hg19) ; chr9:g.120439470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439470C>G , CM000671.2:g.120439470C>G	GRCh38
NC_000009.11:g.123201748C>G , CM000671.1:g.123201748C>G	GRCh37
NC_000009.10:g.122241569C>G	NCBI36
NG_008999.1:g.145690G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2961G>C	ENSP00000354065.4:p.Gln987His
ENST00000416449.6:c.3555G>C	ENSP00000400395.2:p.Gln1185His
ENST00000479584.2:n.1898G>C
ENST00000684780.1:n.3941G>C
ENST00000685866.1:c.*1478G>C	ENSP00000509484.1:n.*1478G>C
ENST00000686376.1:c.3731G>C	ENSP00000510021.1:n.3731G>C
ENST00000686842.1:n.7205G>C
ENST00000687279.1:c.3648G>C	ENSP00000508692.1:p.Gln1216His
ENST00000687311.1:n.3614G>C
ENST00000687633.1:c.3552G>C	ENSP00000510289.1:p.Gln1184His
ENST00000688923.1:n.3023G>C
ENST00000689688.1:c.3651G>C	ENSP00000510155.1:p.Gln1217His
ENST00000690646.1:c.3555G>C	ENSP00000510383.1:p.Gln1185His
ENST00000690814.1:c.*827G>C	ENSP00000508792.1:n.*827G>C
ENST00000691504.1:n.3545G>C
ENST00000692155.1:c.3731G>C	ENSP00000510290.1:n.3731G>C
ENST00000692746.1:n.3558G>C
ENST00000693386.1:c.3555G>C	ENSP00000510003.1:p.Gln1185His
ENST00000693433.1:n.3545G>C
ENST00000693714.1:n.3598G>C
ENST00000693728.1:c.3555G>C	ENSP00000510580.1:p.Gln1185His
ENST00000349780.9:c.3651G>C MANE Select	ENSP00000343818.4:p.Gln1217His
ENST00000349780.8:c.3651G>C	ENSP00000343818.4:p.Gln1217His
ENST00000360190.8:c.3651G>C	ENSP00000353317.4:p.Gln1217His
ENST00000360822.7:c.2961G>C	ENSP00000354065.4:p.Gln987His
ENST00000416449.5:c.1833G>C	ENSP00000400395.1:p.Gln611His
ENST00000425647.1:c.681G>C	ENSP00000409941.1:p.Gln227His
ENST00000473282.6:c.*2475G>C	ENSP00000419265.1:n.*2475G>C
ENST00000480112.5:c.*1478G>C	ENSP00000418418.1:n.*1478G>C
ENST00000483412.5:n.2959G>C
NM_001011649.2:c.3651G>C	NP_001011649.1:p.Gln1217His
NM_001272039.1:c.2961G>C	NP_001258968.1:p.Gln987His
NM_018249.5:c.3651G>C	NP_060719.4:p.Gln1217His
NR_073554.1:n.3920G>C
NR_073555.1:n.3843G>C
NR_073556.1:n.4050G>C
NR_073557.1:n.3923G>C
NR_073558.1:n.3920G>C
XM_006717182.1:c.3555G>C	XP_006717245.1:p.Gln1185His
XM_006717185.1:c.2964G>C	XP_006717248.1:p.Gln988His
XM_011518860.1:c.3648G>C	XP_011517162.1:p.Gln1216His
XM_011518861.1:c.3648G>C	XP_011517163.1:p.Gln1216His
XM_017014921.1:c.3552G>C	XP_016870410.1:p.Gln1184His
XM_017014922.1:c.2817G>C	XP_016870411.1:p.Gln939His
XM_017014923.1:c.2964G>C	XP_016870412.1:p.Gln988His
XM_017014924.1:c.1446G>C	XP_016870413.1:p.Gln482His
NM_018249.6:c.3651G>C MANE Select	NP_060719.4:p.Gln1217His
NM_001011649.3:c.3651G>C	NP_001011649.1:p.Gln1217His
NR_073554.2:n.3917G>C
NR_073555.2:n.3840G>C
NR_073556.2:n.4047G>C
NR_073557.2:n.3920G>C
NR_073558.2:n.3917G>C
NM_001272039.2:c.2961G>C	NP_001258968.1:p.Gln987His