Canonical Allele Identifier: CA378830651

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133293748T>G , CM000672.2:g.133293748T>G	GRCh38
NC_000010.10:g.135107252T>G , CM000672.1:g.135107252T>G	GRCh37
NC_000010.9:g.134957242T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.638A>C MANE Select	NP_006650.1:p.Gln213Pro
ENST00000252936.8:c.638A>C MANE Select	ENSP00000252936.3:p.Gln213Pro
NM_001256617.1:c.722A>C	NP_001243546.1:p.Gln241Pro
NM_001256617.2:c.722A>C	NP_001243546.1:p.Gln241Pro
NM_001256618.1:c.248A>C	NP_001243547.1:p.Gln83Pro
NM_001256618.2:c.248A>C	NP_001243547.1:p.Gln83Pro
NM_006659.3:c.638A>C	NP_006650.1:p.Gln213Pro
NR_046330.1:n.1395A>C
NR_046330.2:n.1395A>C
ENST00000252936.7:c.638A>C	ENSP00000252936.3:p.Gln213Pro
ENST00000368563.6:c.638A>C	ENSP00000357551.2:p.Gln213Pro
ENST00000417178.6:c.248A>C	ENSP00000395666.2:p.Gln83Pro
ENST00000417178.7:c.248A>C	ENSP00000395666.2:p.Gln83Pro
ENST00000482278.5:c.638A>C	ENSP00000436438.1:p.Gln213Pro
ENST00000543663.5:c.722A>C	ENSP00000446093.1:p.Gln241Pro
ENST00000543663.6:c.722A>C	ENSP00000446093.1:p.Gln241Pro
ENST00000682093.1:c.*174A>C	ENSP00000508354.1:n.*174A>C
ENST00000682123.1:c.638A>C	ENSP00000507610.1:p.Gln213Pro
ENST00000682161.1:c.638A>C	ENSP00000507509.1:p.Gln213Pro
ENST00000682256.1:n.1865A>C
ENST00000682332.1:n.832A>C
ENST00000682515.1:c.638A>C	ENSP00000506731.1:p.Gln213Pro
ENST00000682631.1:c.*666A>C	ENSP00000507220.1:n.*666A>C
ENST00000682712.1:n.654A>C
ENST00000682905.1:c.671A>C	ENSP00000507305.1:p.Gln224Pro
ENST00000682990.1:c.638A>C	ENSP00000506868.1:p.Gln213Pro
ENST00000683014.1:c.638A>C	ENSP00000507631.1:p.Gln213Pro
ENST00000683060.1:c.638A>C	ENSP00000508258.1:p.Gln213Pro
ENST00000683383.1:c.638A>C	ENSP00000507601.1:p.Gln213Pro
ENST00000683552.1:n.832A>C
ENST00000683612.1:c.638A>C	ENSP00000507482.1:p.Gln213Pro
ENST00000683673.1:n.832A>C
ENST00000683704.1:n.832A>C
ENST00000683786.1:c.*445A>C	ENSP00000508200.1:n.*445A>C
ENST00000683829.1:c.*617A>C	ENSP00000508146.1:n.*617A>C
ENST00000684478.1:c.*120A>C	ENSP00000507361.1:n.*120A>C
ENST00000684487.1:c.638A>C	ENSP00000507802.1:p.Gln213Pro