Canonical Allele Identifier: CA5763672

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133283916G>T , CM000672.2:g.133283916G>T	GRCh38
NC_000010.10:g.135097420G>T , CM000672.1:g.135097420G>T	GRCh37
NC_000010.9:g.134947410G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.2111C>A MANE Select	NP_006650.1:p.Pro704Gln
ENST00000252936.8:c.2111C>A MANE Select	ENSP00000252936.3:p.Pro704Gln
NM_001256617.1:c.2195C>A	NP_001243546.1:p.Pro732Gln
NM_001256617.2:c.2195C>A	NP_001243546.1:p.Pro732Gln
NM_001256618.1:c.1721C>A	NP_001243547.1:p.Pro574Gln
NM_001256618.2:c.1721C>A	NP_001243547.1:p.Pro574Gln
NM_006659.3:c.2111C>A	NP_006650.1:p.Pro704Gln
NR_046330.1:n.2868C>A
NR_046330.2:n.2868C>A
ENST00000252936.7:c.2111C>A	ENSP00000252936.3:p.Pro704Gln
ENST00000368562.5:c.890C>A	ENSP00000357550.1:p.Pro297Gln
ENST00000368563.6:c.2111C>A	ENSP00000357551.2:p.Pro704Gln
ENST00000417178.6:c.1721C>A	ENSP00000395666.2:p.Pro574Gln
ENST00000417178.7:c.1721C>A	ENSP00000395666.2:p.Pro574Gln
ENST00000482278.5:c.2111C>A	ENSP00000436438.1:p.Pro704Gln
ENST00000543663.5:c.2195C>A	ENSP00000446093.1:p.Pro732Gln
ENST00000543663.6:c.2195C>A	ENSP00000446093.1:p.Pro732Gln
ENST00000682093.1:c.*1616C>A	ENSP00000508354.1:n.*1616C>A
ENST00000682123.1:c.2111C>A	ENSP00000507610.1:p.Pro704Gln
ENST00000682161.1:c.2180C>A	ENSP00000507509.1:p.Pro727Gln
ENST00000682256.1:n.3338C>A
ENST00000682332.1:n.2547C>A
ENST00000682515.1:c.2111C>A	ENSP00000506731.1:p.Pro704Gln
ENST00000682631.1:c.*2139C>A	ENSP00000507220.1:n.*2139C>A
ENST00000682712.1:n.2127C>A
ENST00000682905.1:c.2144C>A	ENSP00000507305.1:p.Pro715Gln
ENST00000682990.1:c.2111C>A	ENSP00000506868.1:p.Pro704Gln
ENST00000683014.1:c.2078C>A	ENSP00000507631.1:p.Pro693Gln
ENST00000683060.1:c.1982C>A	ENSP00000508258.1:p.Pro661Gln
ENST00000683308.1:n.1224C>A
ENST00000683383.1:c.2111C>A	ENSP00000507601.1:p.Pro704Gln
ENST00000683612.1:c.2111C>A	ENSP00000507482.1:p.Pro704Gln
ENST00000683673.1:n.2628C>A
ENST00000683704.1:n.3387C>A
ENST00000683786.1:c.*1918C>A	ENSP00000508200.1:n.*1918C>A
ENST00000683829.1:c.*2090C>A	ENSP00000508146.1:n.*2090C>A
ENST00000684478.1:c.*1835C>A	ENSP00000507361.1:n.*1835C>A
ENST00000684487.1:c.*427C>A	ENSP00000507802.1:n.*427C>A