Canonical Allele Identifier: CA374721036

Gene: CDK5RAP2

Linked Data

• dbSNP Id: rs1270723917
• gnomAD v2: 9-123201738-T-C
• gnomAD v4: 9-120439460-T-C
• MyVariant Identifiers: chr9:g.123201738T>C (hg19) ; chr9:g.120439460T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.120439460T>C , CM000671.2:g.120439460T>C	GRCh38
NC_000009.11:g.123201738T>C , CM000671.1:g.123201738T>C	GRCh37
NC_000009.10:g.122241559T>C	NCBI36
NG_008999.1:g.145700A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360822.8:c.2971A>G	ENSP00000354065.4:p.Met991Val
ENST00000416449.6:c.3565A>G	ENSP00000400395.2:p.Met1189Val
ENST00000479584.2:n.1908A>G
ENST00000684780.1:n.3951A>G
ENST00000685866.1:c.*1488A>G	ENSP00000509484.1:n.*1488A>G
ENST00000686376.1:c.3741A>G	ENSP00000510021.1:n.3741A>G
ENST00000686842.1:n.7215A>G
ENST00000687279.1:c.3658A>G	ENSP00000508692.1:p.Met1220Val
ENST00000687311.1:n.3624A>G
ENST00000687633.1:c.3562A>G	ENSP00000510289.1:p.Met1188Val
ENST00000688923.1:n.3033A>G
ENST00000689688.1:c.3661A>G	ENSP00000510155.1:p.Met1221Val
ENST00000690646.1:c.3565A>G	ENSP00000510383.1:p.Met1189Val
ENST00000690814.1:c.*837A>G	ENSP00000508792.1:n.*837A>G
ENST00000691504.1:n.3555A>G
ENST00000692155.1:c.3741A>G	ENSP00000510290.1:n.3741A>G
ENST00000692746.1:n.3568A>G
ENST00000693386.1:c.3565A>G	ENSP00000510003.1:p.Met1189Val
ENST00000693433.1:n.3555A>G
ENST00000693714.1:n.3608A>G
ENST00000693728.1:c.3565A>G	ENSP00000510580.1:p.Met1189Val
ENST00000349780.9:c.3661A>G MANE Select	ENSP00000343818.4:p.Met1221Val
ENST00000349780.8:c.3661A>G	ENSP00000343818.4:p.Met1221Val
ENST00000360190.8:c.3661A>G	ENSP00000353317.4:p.Met1221Val
ENST00000360822.7:c.2971A>G	ENSP00000354065.4:p.Met991Val
ENST00000416449.5:c.1843A>G	ENSP00000400395.1:p.Met615Val
ENST00000425647.1:c.691A>G	ENSP00000409941.1:p.Met231Val
ENST00000473282.6:c.*2485A>G	ENSP00000419265.1:n.*2485A>G
ENST00000480112.5:c.*1488A>G	ENSP00000418418.1:n.*1488A>G
ENST00000483412.5:n.2969A>G
NM_001011649.2:c.3661A>G	NP_001011649.1:p.Met1221Val
NM_001272039.1:c.2971A>G	NP_001258968.1:p.Met991Val
NM_018249.5:c.3661A>G	NP_060719.4:p.Met1221Val
NR_073554.1:n.3930A>G
NR_073555.1:n.3853A>G
NR_073556.1:n.4060A>G
NR_073557.1:n.3933A>G
NR_073558.1:n.3930A>G
XM_006717182.1:c.3565A>G	XP_006717245.1:p.Met1189Val
XM_006717185.1:c.2974A>G	XP_006717248.1:p.Met992Val
XM_011518860.1:c.3658A>G	XP_011517162.1:p.Met1220Val
XM_011518861.1:c.3658A>G	XP_011517163.1:p.Met1220Val
XM_017014921.1:c.3562A>G	XP_016870410.1:p.Met1188Val
XM_017014922.1:c.2827A>G	XP_016870411.1:p.Met943Val
XM_017014923.1:c.2974A>G	XP_016870412.1:p.Met992Val
XM_017014924.1:c.1456A>G	XP_016870413.1:p.Met486Val
NM_018249.6:c.3661A>G MANE Select	NP_060719.4:p.Met1221Val
NM_001011649.3:c.3661A>G	NP_001011649.1:p.Met1221Val
NR_073554.2:n.3927A>G
NR_073555.2:n.3850A>G
NR_073556.2:n.4057A>G
NR_073557.2:n.3930A>G
NR_073558.2:n.3927A>G
NM_001272039.2:c.2971A>G	NP_001258968.1:p.Met991Val