Canonical Allele Identifier: CA5763376

Gene: TUBGCP2

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.133279803G>A , CM000672.2:g.133279803G>A	GRCh38
NC_000010.10:g.135093307G>A , CM000672.1:g.135093307G>A	GRCh37
NC_000010.9:g.134943297G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_006659.4:c.2672C>T MANE Select	NP_006650.1:p.Pro891Leu
ENST00000252936.8:c.2672C>T MANE Select	ENSP00000252936.3:p.Pro891Leu
NM_001256617.1:c.2756C>T	NP_001243546.1:p.Pro919Leu
NM_001256617.2:c.2756C>T	NP_001243546.1:p.Pro919Leu
NM_001256618.1:c.2282C>T	NP_001243547.1:p.Pro761Leu
NM_001256618.2:c.2282C>T	NP_001243547.1:p.Pro761Leu
NM_006659.3:c.2672C>T	NP_006650.1:p.Pro891Leu
NR_046330.1:n.3392C>T
NR_046330.2:n.3392C>T
ENST00000252936.7:c.2672C>T	ENSP00000252936.3:p.Pro891Leu
ENST00000368562.5:c.1451C>T	ENSP00000357550.1:p.Pro484Leu
ENST00000368563.6:c.2672C>T	ENSP00000357551.2:p.Pro891Leu
ENST00000417178.6:c.2282C>T	ENSP00000395666.2:p.Pro761Leu
ENST00000417178.7:c.2282C>T	ENSP00000395666.2:p.Pro761Leu
ENST00000477923.1:n.349C>T
ENST00000482278.5:c.*469C>T	ENSP00000436438.1:n.*469C>T
ENST00000543663.5:c.2756C>T	ENSP00000446093.1:p.Pro919Leu
ENST00000543663.6:c.2756C>T	ENSP00000446093.1:p.Pro919Leu
ENST00000682093.1:c.*2177C>T	ENSP00000508354.1:n.*2177C>T
ENST00000682123.1:c.2672C>T	ENSP00000507610.1:p.Pro891Leu
ENST00000682161.1:c.2741C>T	ENSP00000507509.1:p.Pro914Leu
ENST00000682256.1:n.3899C>T
ENST00000682332.1:n.3108C>T
ENST00000682515.1:c.2672C>T	ENSP00000506731.1:p.Pro891Leu
ENST00000682591.1:n.1854C>T
ENST00000682631.1:c.*2700C>T	ENSP00000507220.1:n.*2700C>T
ENST00000682905.1:c.2705C>T	ENSP00000507305.1:p.Pro902Leu
ENST00000682990.1:c.*915C>T	ENSP00000506868.1:n.*915C>T
ENST00000683014.1:c.2639C>T	ENSP00000507631.1:p.Pro880Leu
ENST00000683060.1:c.2543C>T	ENSP00000508258.1:p.Pro848Leu
ENST00000683308.1:n.1785C>T
ENST00000683383.1:c.2552C>T	ENSP00000507601.1:p.Pro851Leu
ENST00000683612.1:c.2672C>T	ENSP00000507482.1:p.Pro891Leu
ENST00000683673.1:n.3189C>T
ENST00000683786.1:c.*2479C>T	ENSP00000508200.1:n.*2479C>T
ENST00000683829.1:c.*2651C>T	ENSP00000508146.1:n.*2651C>T
ENST00000684478.1:c.*2396C>T	ENSP00000507361.1:n.*2396C>T
ENST00000684487.1:c.*988C>T	ENSP00000507802.1:n.*988C>T