Canonical Allele Identifier: CA39596375
Gene: TBCE HGNC NCBI
B3GALNT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235442056G>C , CM000663.2:g.235442056G>C GRCh38
NC_000001.10:g.235605371G>C , CM000663.1:g.235605371G>C GRCh37
NC_000001.9:g.233671994G>C NCBI36
NG_009230.1:g.79644G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000366601.8:c.1150+174G>C (TBCE) ENSP00000355560.4:n.1150+174G>C
ENST00000406207.5:c.1339+174G>C (TBCE) ENSP00000384571.1:n.1339+174G>C
ENST00000465463.2:n.1061+174G>C (TBCE)
ENST00000472011.6:n.2063+174G>C (TBCE)
ENST00000543662.4:c.1492+174G>C (TBCE) ENSP00000439170.1:n.1492+174G>C
ENST00000642339.1:c.*1036+174G>C (TBCE) ENSP00000495425.1:n.*1036+174G>C
ENST00000642431.1:c.1916+174G>C
ENST00000642463.1:c.*1237+174G>C (TBCE) ENSP00000495007.1:n.*1237+174G>C
ENST00000642503.1:c.*1113+174G>C ENSP00000494334.1:n.*1113+174G>C
ENST00000642610.2:c.1339+174G>C (TBCE) MANE Select ENSP00000494796.1:n.1339+174G>C
ENST00000642764.1:n.2170+174G>C (TBCE)
ENST00000643125.1:c.*354+174G>C (TBCE) ENSP00000494102.1:n.*354+174G>C
ENST00000643142.1:c.*830+174G>C (TBCE) ENSP00000494755.1:n.*830+174G>C
ENST00000643238.1:c.*359+174G>C (TBCE) ENSP00000495916.1:n.*359+174G>C
ENST00000643410.1:c.*629+174G>C ENSP00000495030.1:n.*629+174G>C
ENST00000643487.1:n.2026+174G>C (TBCE)
ENST00000643524.1:c.*924+174G>C (TBCE) ENSP00000494026.1:n.*924+174G>C
ENST00000643615.1:c.*1185+174G>C (TBCE) ENSP00000496103.1:n.*1185+174G>C
ENST00000643993.1:n.1475+174G>C (TBCE)
ENST00000643994.1:c.*1339+174G>C (TBCE) ENSP00000496322.1:n.*1339+174G>C
ENST00000644037.1:c.*1549+174G>C (TBCE) ENSP00000496408.1:n.*1549+174G>C
ENST00000644055.1:c.*1964+174G>C ENSP00000496307.1:n.*1964+174G>C
ENST00000644126.1:n.3011+174G>C (TBCE)
ENST00000644217.1:c.1405+174G>C (TBCE) ENSP00000494646.1:n.1405+174G>C
ENST00000644578.1:c.1219+174G>C (TBCE) ENSP00000495953.1:n.1219+174G>C
ENST00000644604.1:c.1339+174G>C ENSP00000495961.1:n.1339+174G>C
ENST00000644680.1:c.*1860+174G>C ENSP00000496173.1:n.*1860+174G>C
ENST00000644838.1:c.*722+174G>C (TBCE) ENSP00000495910.1:n.*722+174G>C
ENST00000644910.1:c.1946+174G>C (TBCE)
ENST00000645205.1:c.1339+174G>C ENSP00000495823.1:n.1339+174G>C
ENST00000645351.1:c.1339+174G>C ENSP00000494319.1:n.1339+174G>C
ENST00000645551.1:c.*1056+174G>C (TBCE) ENSP00000495928.1:n.*1056+174G>C
ENST00000645578.1:c.*1113+174G>C ENSP00000496495.1:n.*1113+174G>C
ENST00000645582.1:c.*1169+174G>C (TBCE) ENSP00000494980.1:n.*1169+174G>C
ENST00000645655.1:c.1339+174G>C ENSP00000495202.1:n.1339+174G>C
ENST00000645836.1:c.*1113+174G>C ENSP00000493915.1:n.*1113+174G>C
ENST00000645899.1:c.1339+174G>C (TBCE) ENSP00000496773.1:n.1339+174G>C
ENST00000645964.1:c.*1205+174G>C (TBCE) ENSP00000494208.1:n.*1205+174G>C
ENST00000646104.1:c.*1807+174G>C (TBCE) ENSP00000495475.1:n.*1807+174G>C
ENST00000646186.1:c.*1011+174G>C (TBCE) ENSP00000493806.1:n.*1011+174G>C
ENST00000646286.1:c.*1232+174G>C (TBCE) ENSP00000494291.1:n.*1232+174G>C
ENST00000646463.1:c.*1104+174G>C (TBCE) ENSP00000494541.1:n.*1104+174G>C
ENST00000646528.1:c.*2055+174G>C ENSP00000496553.1:n.*2055+174G>C
ENST00000646536.1:c.*633+174G>C (TBCE) ENSP00000494801.1:n.*633+174G>C
ENST00000646624.1:c.1339+174G>C ENSP00000494575.1:n.1339+174G>C
ENST00000646661.1:n.119+174G>C (TBCE)
ENST00000646821.1:c.*629+174G>C (TBCE) ENSP00000495257.1:n.*629+174G>C
ENST00000646848.1:c.*554+174G>C (TBCE) ENSP00000495831.1:n.*554+174G>C
ENST00000647151.1:c.13+174G>C (TBCE) ENSP00000495125.1:n.13+174G>C
ENST00000647186.1:c.1339+174G>C ENSP00000494775.1:n.1339+174G>C
ENST00000647233.1:n.2319+174G>C (TBCE)
ENST00000647322.1:c.930+174G>C (TBCE)
ENST00000647418.1:c.*1113+174G>C (TBCE) ENSP00000493552.1:n.*1113+174G>C
ENST00000647428.1:c.1000+174G>C ENSP00000495630.1:n.1000+174G>C
ENST00000651186.1:c.1000+174G>C (TBCE) ENSP00000498645.1:n.1000+174G>C
ENST00000366601.7:c.1339+174G>C ENSP00000355560.3:n.1339+174G>C
ENST00000406207.4:c.1339+174G>C ENSP00000384571.1:n.1339+174G>C
ENST00000465463.1:n.179+174G>C
ENST00000472011.5:n.1391+174G>C
ENST00000543662.3:c.1492+174G>C ENSP00000439170.1:n.1492+174G>C
NM_001079515.2:c.1339+174G>C (TBCE) NP_001072983.1:n.1339+174G>C
NM_001287801.1:c.1492+174G>C (TBCE) NP_001274730.1:n.1492+174G>C
NM_001287802.1:c.1000+174G>C (TBCE) NP_001274731.1:n.1000+174G>C
NM_003193.4:c.1339+174G>C (TBCE) NP_003184.1:n.1339+174G>C
XM_006711749.2:c.1470-558C>G (B3GALNT2) XP_006711812.1:n.1470-558C>G
XM_006711749.3:c.1470-558C>G (B3GALNT2) XP_006711812.1:n.1470-558C>G
NM_003193.5:c.1339+174G>C (TBCE) MANE Select NP_003184.1:n.1339+174G>C
NM_001079515.3:c.1339+174G>C (TBCE) NP_001072983.1:n.1339+174G>C
NM_001287801.2:c.1492+174G>C (TBCE) NP_001274730.1:n.1492+174G>C
NM_001287802.2:c.1000+174G>C (TBCE) NP_001274731.1:n.1000+174G>C