Canonical Allele Identifier: CA467070849
Gene: CDK5RAP2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.123201721C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.120439443C>T , CM000671.2:g.120439443C>T GRCh38
NC_000009.11:g.123201721C>T , CM000671.1:g.123201721C>T GRCh37
NC_000009.10:g.122241542C>T NCBI36
NG_008999.1:g.145717G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000360822.8:c.2988G>A ENSP00000354065.4:p.Glu996=
ENST00000416449.6:c.3582G>A ENSP00000400395.2:p.Glu1194=
ENST00000479584.2:n.1925G>A
ENST00000684780.1:n.3968G>A
ENST00000685866.1:c.*1505G>A ENSP00000509484.1:n.*1505G>A
ENST00000686376.1:c.3758G>A ENSP00000510021.1:n.3758G>A
ENST00000686842.1:n.7232G>A
ENST00000687279.1:c.3675G>A ENSP00000508692.1:p.Glu1225=
ENST00000687311.1:n.3641G>A
ENST00000687633.1:c.3579G>A ENSP00000510289.1:p.Glu1193=
ENST00000688923.1:n.3050G>A
ENST00000689688.1:c.3678G>A ENSP00000510155.1:p.Glu1226=
ENST00000690646.1:c.3582G>A ENSP00000510383.1:p.Glu1194=
ENST00000690814.1:c.*854G>A ENSP00000508792.1:n.*854G>A
ENST00000691504.1:n.3572G>A
ENST00000692155.1:c.3758G>A ENSP00000510290.1:n.3758G>A
ENST00000692746.1:n.3585G>A
ENST00000693386.1:c.3582G>A ENSP00000510003.1:p.Glu1194=
ENST00000693433.1:n.3572G>A
ENST00000693714.1:n.3625G>A
ENST00000693728.1:c.3582G>A ENSP00000510580.1:p.Glu1194=
ENST00000349780.9:c.3678G>A MANE Select ENSP00000343818.4:p.Glu1226=
ENST00000349780.8:c.3678G>A ENSP00000343818.4:p.Glu1226=
ENST00000360190.8:c.3678G>A ENSP00000353317.4:p.Glu1226=
ENST00000360822.7:c.2988G>A ENSP00000354065.4:p.Glu996=
ENST00000416449.5:c.1860G>A ENSP00000400395.1:p.Glu620=
ENST00000425647.1:c.708G>A ENSP00000409941.1:p.Glu236=
ENST00000473282.6:c.*2502G>A ENSP00000419265.1:n.*2502G>A
ENST00000480112.5:c.*1505G>A ENSP00000418418.1:n.*1505G>A
ENST00000483412.5:n.2986G>A
NM_001011649.2:c.3678G>A NP_001011649.1:p.Glu1226=
NM_001272039.1:c.2988G>A NP_001258968.1:p.Glu996=
NM_018249.5:c.3678G>A NP_060719.4:p.Glu1226=
NR_073554.1:n.3947G>A
NR_073555.1:n.3870G>A
NR_073556.1:n.4077G>A
NR_073557.1:n.3950G>A
NR_073558.1:n.3947G>A
XM_006717182.1:c.3582G>A XP_006717245.1:p.Glu1194=
XM_006717185.1:c.2991G>A XP_006717248.1:p.Glu997=
XM_011518860.1:c.3675G>A XP_011517162.1:p.Glu1225=
XM_011518861.1:c.3675G>A XP_011517163.1:p.Glu1225=
XM_017014921.1:c.3579G>A XP_016870410.1:p.Glu1193=
XM_017014922.1:c.2844G>A XP_016870411.1:p.Glu948=
XM_017014923.1:c.2991G>A XP_016870412.1:p.Glu997=
XM_017014924.1:c.1473G>A XP_016870413.1:p.Glu491=
NM_018249.6:c.3678G>A MANE Select NP_060719.4:p.Glu1226=
NM_001011649.3:c.3678G>A NP_001011649.1:p.Glu1226=
NR_073554.2:n.3944G>A
NR_073555.2:n.3867G>A
NR_073556.2:n.4074G>A
NR_073557.2:n.3947G>A
NR_073558.2:n.3944G>A
NM_001272039.2:c.2988G>A NP_001258968.1:p.Glu996=