Canonical Allele Identifier: CA199324522

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs141607691
• gnomAD v3: 9-120439443-C-A
• gnomAD v4: 9-120439443-C-A
• MyVariant Identifiers: chr9:g.123201721C>A (hg19) ; chr9:g.120439443C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2988G>T	ENSP00000354065.4:p.Glu996Asp
ENST00000416449.6:c.3582G>T	ENSP00000400395.2:p.Glu1194Asp
ENST00000479584.2:n.1925G>T
ENST00000684780.1:n.3968G>T
ENST00000685866.1:c.*1505G>T	ENSP00000509484.1:n.*1505G>T
ENST00000686376.1:c.3758G>T	ENSP00000510021.1:n.3758G>T
ENST00000686842.1:n.7232G>T
ENST00000687279.1:c.3675G>T	ENSP00000508692.1:p.Glu1225Asp
ENST00000687311.1:n.3641G>T
ENST00000687633.1:c.3579G>T	ENSP00000510289.1:p.Glu1193Asp
ENST00000688923.1:n.3050G>T
ENST00000689688.1:c.3678G>T	ENSP00000510155.1:p.Glu1226Asp
ENST00000690646.1:c.3582G>T	ENSP00000510383.1:p.Glu1194Asp
ENST00000690814.1:c.*854G>T	ENSP00000508792.1:n.*854G>T
ENST00000691504.1:n.3572G>T
ENST00000692155.1:c.3758G>T	ENSP00000510290.1:n.3758G>T
ENST00000692746.1:n.3585G>T
ENST00000693386.1:c.3582G>T	ENSP00000510003.1:p.Glu1194Asp
ENST00000693433.1:n.3572G>T
ENST00000693714.1:n.3625G>T
ENST00000693728.1:c.3582G>T	ENSP00000510580.1:p.Glu1194Asp
ENST00000349780.9:c.3678G>T MANE Select	ENSP00000343818.4:p.Glu1226Asp
ENST00000349780.8:c.3678G>T	ENSP00000343818.4:p.Glu1226Asp
ENST00000360190.8:c.3678G>T	ENSP00000353317.4:p.Glu1226Asp
ENST00000360822.7:c.2988G>T	ENSP00000354065.4:p.Glu996Asp
ENST00000416449.5:c.1860G>T	ENSP00000400395.1:p.Glu620Asp
ENST00000425647.1:c.708G>T	ENSP00000409941.1:p.Glu236Asp
ENST00000473282.6:c.*2502G>T	ENSP00000419265.1:n.*2502G>T
ENST00000480112.5:c.*1505G>T	ENSP00000418418.1:n.*1505G>T
ENST00000483412.5:n.2986G>T
NM_001011649.2:c.3678G>T	NP_001011649.1:p.Glu1226Asp
NM_001272039.1:c.2988G>T	NP_001258968.1:p.Glu996Asp
NM_018249.5:c.3678G>T	NP_060719.4:p.Glu1226Asp
NR_073554.1:n.3947G>T
NR_073555.1:n.3870G>T
NR_073556.1:n.4077G>T
NR_073557.1:n.3950G>T
NR_073558.1:n.3947G>T
XM_006717182.1:c.3582G>T	XP_006717245.1:p.Glu1194Asp
XM_006717185.1:c.2991G>T	XP_006717248.1:p.Glu997Asp
XM_011518860.1:c.3675G>T	XP_011517162.1:p.Glu1225Asp
XM_011518861.1:c.3675G>T	XP_011517163.1:p.Glu1225Asp
XM_017014921.1:c.3579G>T	XP_016870410.1:p.Glu1193Asp
XM_017014922.1:c.2844G>T	XP_016870411.1:p.Glu948Asp
XM_017014923.1:c.2991G>T	XP_016870412.1:p.Glu997Asp
XM_017014924.1:c.1473G>T	XP_016870413.1:p.Glu491Asp
NM_018249.6:c.3678G>T MANE Select	NP_060719.4:p.Glu1226Asp
NM_001011649.3:c.3678G>T	NP_001011649.1:p.Glu1226Asp
NR_073554.2:n.3944G>T
NR_073555.2:n.3867G>T
NR_073556.2:n.4074G>T
NR_073557.2:n.3947G>T
NR_073558.2:n.3944G>T
NM_001272039.2:c.2988G>T	NP_001258968.1:p.Glu996Asp