Canonical Allele Identifier: CA5763525

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133282246C>T , CM000672.2:g.133282246C>T	GRCh38
NC_000010.10:g.135095750C>T , CM000672.1:g.135095750C>T	GRCh37
NC_000010.9:g.134945740C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.2386G>A MANE Select	NP_006650.1:p.Ala796Thr
ENST00000252936.8:c.2386G>A MANE Select	ENSP00000252936.3:p.Ala796Thr
NM_001256617.1:c.2470G>A	NP_001243546.1:p.Ala824Thr
NM_001256617.2:c.2470G>A	NP_001243546.1:p.Ala824Thr
NM_001256618.1:c.1996G>A	NP_001243547.1:p.Ala666Thr
NM_001256618.2:c.1996G>A	NP_001243547.1:p.Ala666Thr
NM_006659.3:c.2386G>A	NP_006650.1:p.Ala796Thr
NR_046330.1:n.3106G>A
NR_046330.2:n.3106G>A
ENST00000252936.7:c.2386G>A	ENSP00000252936.3:p.Ala796Thr
ENST00000368562.5:c.1165G>A	ENSP00000357550.1:p.Ala389Thr
ENST00000368563.6:c.2386G>A	ENSP00000357551.2:p.Ala796Thr
ENST00000417178.6:c.1996G>A	ENSP00000395666.2:p.Ala666Thr
ENST00000417178.7:c.1996G>A	ENSP00000395666.2:p.Ala666Thr
ENST00000482278.5:c.*183G>A	ENSP00000436438.1:n.*183G>A
ENST00000543663.5:c.2470G>A	ENSP00000446093.1:p.Ala824Thr
ENST00000543663.6:c.2470G>A	ENSP00000446093.1:p.Ala824Thr
ENST00000682093.1:c.*1891G>A	ENSP00000508354.1:n.*1891G>A
ENST00000682123.1:c.2386G>A	ENSP00000507610.1:p.Ala796Thr
ENST00000682161.1:c.2455G>A	ENSP00000507509.1:p.Ala819Thr
ENST00000682256.1:n.3613G>A
ENST00000682332.1:n.2822G>A
ENST00000682515.1:c.2386G>A	ENSP00000506731.1:p.Ala796Thr
ENST00000682591.1:n.782G>A
ENST00000682631.1:c.*2414G>A	ENSP00000507220.1:n.*2414G>A
ENST00000682712.1:n.2402G>A
ENST00000682905.1:c.2419G>A	ENSP00000507305.1:p.Ala807Thr
ENST00000682990.1:c.2386G>A	ENSP00000506868.1:p.Ala796Thr
ENST00000683014.1:c.2353G>A	ENSP00000507631.1:p.Ala785Thr
ENST00000683060.1:c.2257G>A	ENSP00000508258.1:p.Ala753Thr
ENST00000683308.1:n.1499G>A
ENST00000683383.1:c.2290-810G>A	ENSP00000507601.1:n.2290-810G>A
ENST00000683612.1:c.2386G>A	ENSP00000507482.1:p.Ala796Thr
ENST00000683673.1:n.2903G>A
ENST00000683786.1:c.*2193G>A	ENSP00000508200.1:n.*2193G>A
ENST00000683829.1:c.*2365G>A	ENSP00000508146.1:n.*2365G>A
ENST00000684478.1:c.*2110G>A	ENSP00000507361.1:n.*2110G>A
ENST00000684487.1:c.*702G>A	ENSP00000507802.1:n.*702G>A