Canonical Allele Identifier: CA5763452

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133281331G>A , CM000672.2:g.133281331G>A	GRCh38
NC_000010.10:g.135094835G>A , CM000672.1:g.135094835G>A	GRCh37
NC_000010.9:g.134944825G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.2515C>T MANE Select	NP_006650.1:p.Arg839Trp
ENST00000252936.8:c.2515C>T MANE Select	ENSP00000252936.3:p.Arg839Trp
NM_001256617.1:c.2599C>T	NP_001243546.1:p.Arg867Trp
NM_001256617.2:c.2599C>T	NP_001243546.1:p.Arg867Trp
NM_001256618.1:c.2125C>T	NP_001243547.1:p.Arg709Trp
NM_001256618.2:c.2125C>T	NP_001243547.1:p.Arg709Trp
NM_006659.3:c.2515C>T	NP_006650.1:p.Arg839Trp
NR_046330.1:n.3235C>T
NR_046330.2:n.3235C>T
ENST00000252936.7:c.2515C>T	ENSP00000252936.3:p.Arg839Trp
ENST00000368562.5:c.1294C>T	ENSP00000357550.1:p.Arg432Trp
ENST00000368563.6:c.2515C>T	ENSP00000357551.2:p.Arg839Trp
ENST00000417178.6:c.2125C>T	ENSP00000395666.2:p.Arg709Trp
ENST00000417178.7:c.2125C>T	ENSP00000395666.2:p.Arg709Trp
ENST00000477923.1:n.192C>T
ENST00000482278.5:c.*312C>T	ENSP00000436438.1:n.*312C>T
ENST00000543663.5:c.2599C>T	ENSP00000446093.1:p.Arg867Trp
ENST00000543663.6:c.2599C>T	ENSP00000446093.1:p.Arg867Trp
ENST00000682093.1:c.*2020C>T	ENSP00000508354.1:n.*2020C>T
ENST00000682123.1:c.2515C>T	ENSP00000507610.1:p.Arg839Trp
ENST00000682161.1:c.2584C>T	ENSP00000507509.1:p.Arg862Trp
ENST00000682256.1:n.3742C>T
ENST00000682332.1:n.2951C>T
ENST00000682515.1:c.2515C>T	ENSP00000506731.1:p.Arg839Trp
ENST00000682591.1:n.1697C>T
ENST00000682631.1:c.*2543C>T	ENSP00000507220.1:n.*2543C>T
ENST00000682712.1:n.2531C>T
ENST00000682905.1:c.2548C>T	ENSP00000507305.1:p.Arg850Trp
ENST00000682990.1:c.*758C>T	ENSP00000506868.1:n.*758C>T
ENST00000683014.1:c.2482C>T	ENSP00000507631.1:p.Arg828Trp
ENST00000683060.1:c.2386C>T	ENSP00000508258.1:p.Arg796Trp
ENST00000683308.1:n.1628C>T
ENST00000683383.1:c.2395C>T	ENSP00000507601.1:p.Arg799Trp
ENST00000683612.1:c.2515C>T	ENSP00000507482.1:p.Arg839Trp
ENST00000683673.1:n.3032C>T
ENST00000683786.1:c.*2322C>T	ENSP00000508200.1:n.*2322C>T
ENST00000683829.1:c.*2494C>T	ENSP00000508146.1:n.*2494C>T
ENST00000684478.1:c.*2239C>T	ENSP00000507361.1:n.*2239C>T
ENST00000684487.1:c.*831C>T	ENSP00000507802.1:n.*831C>T