Canonical Allele Identifier: CA472163269

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133288132G>A , CM000672.2:g.133288132G>A	GRCh38
NC_000010.10:g.135101636G>A , CM000672.1:g.135101636G>A	GRCh37
NC_000010.9:g.134951626G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.1719C>T MANE Select	NP_006650.1:p.Leu573=
ENST00000252936.8:c.1719C>T MANE Select	ENSP00000252936.3:p.Leu573=
NM_001256617.1:c.1803C>T	NP_001243546.1:p.Leu601=
NM_001256617.2:c.1803C>T	NP_001243546.1:p.Leu601=
NM_001256618.1:c.1329C>T	NP_001243547.1:p.Leu443=
NM_001256618.2:c.1329C>T	NP_001243547.1:p.Leu443=
NM_006659.3:c.1719C>T	NP_006650.1:p.Leu573=
NR_046330.1:n.2476C>T
NR_046330.2:n.2476C>T
ENST00000252936.7:c.1719C>T	ENSP00000252936.3:p.Leu573=
ENST00000368562.5:c.498C>T	ENSP00000357550.1:p.Leu166=
ENST00000368563.6:c.1719C>T	ENSP00000357551.2:p.Leu573=
ENST00000417178.6:c.1329C>T	ENSP00000395666.2:p.Leu443=
ENST00000417178.7:c.1329C>T	ENSP00000395666.2:p.Leu443=
ENST00000482278.5:c.1719C>T	ENSP00000436438.1:p.Leu573=
ENST00000543663.5:c.1803C>T	ENSP00000446093.1:p.Leu601=
ENST00000543663.6:c.1803C>T	ENSP00000446093.1:p.Leu601=
ENST00000682093.1:c.*1224C>T	ENSP00000508354.1:n.*1224C>T
ENST00000682123.1:c.1719C>T	ENSP00000507610.1:p.Leu573=
ENST00000682161.1:c.1719C>T	ENSP00000507509.1:p.Leu573=
ENST00000682256.1:n.2946C>T
ENST00000682332.1:n.1913C>T
ENST00000682515.1:c.1719C>T	ENSP00000506731.1:p.Leu573=
ENST00000682631.1:c.*1747C>T	ENSP00000507220.1:n.*1747C>T
ENST00000682712.1:n.1735C>T
ENST00000682905.1:c.1752C>T	ENSP00000507305.1:p.Leu584=
ENST00000682990.1:c.1719C>T	ENSP00000506868.1:p.Leu573=
ENST00000683014.1:c.1719C>T	ENSP00000507631.1:p.Leu573=
ENST00000683060.1:c.1719C>T	ENSP00000508258.1:p.Leu573=
ENST00000683308.1:n.832C>T
ENST00000683383.1:c.1719C>T	ENSP00000507601.1:p.Leu573=
ENST00000683612.1:c.1719C>T	ENSP00000507482.1:p.Leu573=
ENST00000683673.1:n.2236C>T
ENST00000683704.1:n.1913C>T
ENST00000683786.1:c.*1526C>T	ENSP00000508200.1:n.*1526C>T
ENST00000683829.1:c.*1698C>T	ENSP00000508146.1:n.*1698C>T
ENST00000684478.1:c.*1201C>T	ENSP00000507361.1:n.*1201C>T
ENST00000684487.1:c.*35C>T	ENSP00000507802.1:n.*35C>T