Canonical Allele Identifier: CA5763746

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133285168G>A , CM000672.2:g.133285168G>A	GRCh38
NC_000010.10:g.135098672G>A , CM000672.1:g.135098672G>A	GRCh37
NC_000010.9:g.134948662G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.1941C>T MANE Select	NP_006650.1:p.Tyr647=
ENST00000252936.8:c.1941C>T MANE Select	ENSP00000252936.3:p.Tyr647=
NM_001256617.1:c.2025C>T	NP_001243546.1:p.Tyr675=
NM_001256617.2:c.2025C>T	NP_001243546.1:p.Tyr675=
NM_001256618.1:c.1551C>T	NP_001243547.1:p.Tyr517=
NM_001256618.2:c.1551C>T	NP_001243547.1:p.Tyr517=
NM_006659.3:c.1941C>T	NP_006650.1:p.Tyr647=
NR_046330.1:n.2698C>T
NR_046330.2:n.2698C>T
ENST00000252936.7:c.1941C>T	ENSP00000252936.3:p.Tyr647=
ENST00000368562.5:c.720C>T	ENSP00000357550.1:p.Tyr240=
ENST00000368563.6:c.1941C>T	ENSP00000357551.2:p.Tyr647=
ENST00000417178.6:c.1551C>T	ENSP00000395666.2:p.Tyr517=
ENST00000417178.7:c.1551C>T	ENSP00000395666.2:p.Tyr517=
ENST00000482278.5:c.1941C>T	ENSP00000436438.1:p.Tyr647=
ENST00000543663.5:c.2025C>T	ENSP00000446093.1:p.Tyr675=
ENST00000543663.6:c.2025C>T	ENSP00000446093.1:p.Tyr675=
ENST00000682093.1:c.*1446C>T	ENSP00000508354.1:n.*1446C>T
ENST00000682123.1:c.1941C>T	ENSP00000507610.1:p.Tyr647=
ENST00000682161.1:c.2010C>T	ENSP00000507509.1:p.Tyr670=
ENST00000682256.1:n.3168C>T
ENST00000682332.1:n.2377C>T
ENST00000682515.1:c.1941C>T	ENSP00000506731.1:p.Tyr647=
ENST00000682631.1:c.*1969C>T	ENSP00000507220.1:n.*1969C>T
ENST00000682712.1:n.1957C>T
ENST00000682905.1:c.1974C>T	ENSP00000507305.1:p.Tyr658=
ENST00000682990.1:c.1941C>T	ENSP00000506868.1:p.Tyr647=
ENST00000683014.1:c.1908C>T	ENSP00000507631.1:p.Tyr636=
ENST00000683060.1:c.1895+288C>T	ENSP00000508258.1:n.1895+288C>T
ENST00000683308.1:n.1054C>T
ENST00000683383.1:c.1941C>T	ENSP00000507601.1:p.Tyr647=
ENST00000683612.1:c.1941C>T	ENSP00000507482.1:p.Tyr647=
ENST00000683673.1:n.2458C>T
ENST00000683704.1:n.2135C>T
ENST00000683786.1:c.*1748C>T	ENSP00000508200.1:n.*1748C>T
ENST00000683829.1:c.*1920C>T	ENSP00000508146.1:n.*1920C>T
ENST00000684478.1:c.*1665C>T	ENSP00000507361.1:n.*1665C>T
ENST00000684487.1:c.*257C>T	ENSP00000507802.1:n.*257C>T