Canonical Allele Identifier: CA5763682
Gene: TUBGCP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.133283945T>C , CM000672.2:g.133283945T>C GRCh38
NC_000010.10:g.135097449T>C , CM000672.1:g.135097449T>C GRCh37
NC_000010.9:g.134947439T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000682093.1:c.*1587A>G ENSP00000508354.1:n.*1587A>G
ENST00000682123.1:c.2082A>G ENSP00000507610.1:p.Gln694=
ENST00000682161.1:c.2151A>G ENSP00000507509.1:p.Gln717=
ENST00000682256.1:n.3309A>G
ENST00000682332.1:n.2518A>G
ENST00000682515.1:c.2082A>G ENSP00000506731.1:p.Gln694=
ENST00000682631.1:c.*2110A>G ENSP00000507220.1:n.*2110A>G
ENST00000682712.1:n.2098A>G
ENST00000682905.1:c.2115A>G ENSP00000507305.1:p.Gln705=
ENST00000682990.1:c.2082A>G ENSP00000506868.1:p.Gln694=
ENST00000683014.1:c.2049A>G ENSP00000507631.1:p.Gln683=
ENST00000683060.1:c.1953A>G ENSP00000508258.1:p.Gln651=
ENST00000683308.1:n.1195A>G
ENST00000683383.1:c.2082A>G ENSP00000507601.1:p.Gln694=
ENST00000683612.1:c.2082A>G ENSP00000507482.1:p.Gln694=
ENST00000683673.1:n.2599A>G
ENST00000683704.1:n.3358A>G
ENST00000683786.1:c.*1889A>G ENSP00000508200.1:n.*1889A>G
ENST00000683829.1:c.*2061A>G ENSP00000508146.1:n.*2061A>G
ENST00000684478.1:c.*1806A>G ENSP00000507361.1:n.*1806A>G
ENST00000684487.1:c.*398A>G ENSP00000507802.1:n.*398A>G
ENST00000252936.8:c.2082A>G MANE Select ENSP00000252936.3:p.Gln694=
ENST00000417178.7:c.1692A>G ENSP00000395666.2:p.Gln564=
ENST00000543663.6:c.2166A>G ENSP00000446093.1:p.Gln722=
ENST00000252936.7:c.2082A>G ENSP00000252936.3:p.Gln694=
ENST00000368562.5:c.861A>G ENSP00000357550.1:p.Gln287=
ENST00000368563.6:c.2082A>G ENSP00000357551.2:p.Gln694=
ENST00000417178.6:c.1692A>G ENSP00000395666.2:p.Gln564=
ENST00000482278.5:c.2082A>G ENSP00000436438.1:p.Gln694=
ENST00000543663.5:c.2166A>G ENSP00000446093.1:p.Gln722=
NM_001256617.1:c.2166A>G NP_001243546.1:p.Gln722=
NM_001256618.1:c.1692A>G NP_001243547.1:p.Gln564=
NM_006659.3:c.2082A>G NP_006650.1:p.Gln694=
NR_046330.1:n.2839A>G
NM_001256617.2:c.2166A>G NP_001243546.1:p.Gln722=
NM_001256618.2:c.1692A>G NP_001243547.1:p.Gln564=
NM_006659.4:c.2082A>G MANE Select NP_006650.1:p.Gln694=
NR_046330.2:n.2839A>G