Canonical Allele Identifier: CA39597448

Gene: TBCE B3GALNT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235443193_235443196dup , CM000663.2:g.235443193_235443196dup	GRCh38
NC_000001.10:g.235606508_235606511dup , CM000663.1:g.235606508_235606511dup	GRCh37
NC_000001.9:g.233673131_233673134dup	NCBI36
NG_009230.1:g.80781_80784dup

Transcript Alleles

HGVS	Amino-acid Change
NM_003193.5:c.1399+282_1399+285dup (TBCE) MANE Select	NP_003184.1:n.1399+282_1399+285dup
ENST00000642610.2:c.1399+282_1399+285dup (TBCE) MANE Select	ENSP00000494796.1:n.1399+282_1399+285dup
NM_001079515.2:c.1399+282_1399+285dup (TBCE)	NP_001072983.1:n.1399+282_1399+285dup
NM_001079515.3:c.1399+282_1399+285dup (TBCE)	NP_001072983.1:n.1399+282_1399+285dup
NM_001287801.1:c.1552+282_1552+285dup (TBCE)	NP_001274730.1:n.1552+282_1552+285dup
NM_001287801.2:c.1552+282_1552+285dup (TBCE)	NP_001274730.1:n.1552+282_1552+285dup
NM_001287802.1:c.1060+282_1060+285dup (TBCE)	NP_001274731.1:n.1060+282_1060+285dup
NM_001287802.2:c.1060+282_1060+285dup (TBCE)	NP_001274731.1:n.1060+282_1060+285dup
NM_003193.4:c.1399+282_1399+285dup (TBCE)	NP_003184.1:n.1399+282_1399+285dup
ENST00000366601.7:c.1399+282_1399+285dup	ENSP00000355560.3:n.1399+282_1399+285dup
ENST00000366601.8:c.1210+282_1210+285dup (TBCE)	ENSP00000355560.4:n.1210+282_1210+285dup
ENST00000406207.4:c.1399+282_1399+285dup	ENSP00000384571.1:n.1399+282_1399+285dup
ENST00000406207.5:c.1399+282_1399+285dup (TBCE)	ENSP00000384571.1:n.1399+282_1399+285dup
ENST00000465463.1:n.239+282_239+285dup
ENST00000465463.2:n.1121+282_1121+285dup (TBCE)
ENST00000472011.5:n.1451+282_1451+285dup
ENST00000472011.6:n.2123+282_2123+285dup (TBCE)
ENST00000543662.3:c.1552+282_1552+285dup	ENSP00000439170.1:n.1552+282_1552+285dup
ENST00000543662.4:c.1552+282_1552+285dup (TBCE)	ENSP00000439170.1:n.1552+282_1552+285dup
ENST00000642339.1:c.*1096+282_*1096+285dup (TBCE)	ENSP00000495425.1:n.*1096+282_*1096+285dup
ENST00000642431.1:c.1976+282_1976+285dup
ENST00000642463.1:c.*1297+282_*1297+285dup (TBCE)	ENSP00000495007.1:n.*1297+282_*1297+285dup
ENST00000642503.1:c.*1173+282_*1173+285dup	ENSP00000494334.1:n.*1173+282_*1173+285dup
ENST00000642764.1:n.2230+282_2230+285dup (TBCE)
ENST00000643125.1:c.*414+282_*414+285dup (TBCE)	ENSP00000494102.1:n.*414+282_*414+285dup
ENST00000643142.1:c.*890+282_*890+285dup (TBCE)	ENSP00000494755.1:n.*890+282_*890+285dup
ENST00000643410.1:c.*689+282_*689+285dup	ENSP00000495030.1:n.*689+282_*689+285dup
ENST00000643487.1:n.2086+282_2086+285dup (TBCE)
ENST00000643524.1:c.*984+282_*984+285dup (TBCE)	ENSP00000494026.1:n.*984+282_*984+285dup
ENST00000643615.1:c.*1245+282_*1245+285dup (TBCE)	ENSP00000496103.1:n.*1245+282_*1245+285dup
ENST00000643993.1:n.1535+282_1535+285dup (TBCE)
ENST00000643994.1:c.*1399+282_*1399+285dup (TBCE)	ENSP00000496322.1:n.*1399+282_*1399+285dup
ENST00000644037.1:c.*1609+282_*1609+285dup (TBCE)	ENSP00000496408.1:n.*1609+282_*1609+285dup
ENST00000644055.1:c.*2024+282_*2024+285dup	ENSP00000496307.1:n.*2024+282_*2024+285dup
ENST00000644126.1:n.3071+282_3071+285dup (TBCE)
ENST00000644217.1:c.1465+282_1465+285dup (TBCE)	ENSP00000494646.1:n.1465+282_1465+285dup
ENST00000644578.1:c.1279+282_1279+285dup (TBCE)	ENSP00000495953.1:n.1279+282_1279+285dup
ENST00000644604.1:c.1399+282_1399+285dup	ENSP00000495961.1:n.1399+282_1399+285dup
ENST00000644680.1:c.*1920+282_*1920+285dup	ENSP00000496173.1:n.*1920+282_*1920+285dup
ENST00000644838.1:c.*782+282_*782+285dup (TBCE)	ENSP00000495910.1:n.*782+282_*782+285dup
ENST00000644910.1:c.2006+282_2006+285dup (TBCE)
ENST00000645205.1:c.1399+282_1399+285dup	ENSP00000495823.1:n.1399+282_1399+285dup
ENST00000645351.1:c.1399+282_1399+285dup	ENSP00000494319.1:n.1399+282_1399+285dup
ENST00000645551.1:c.*1116+282_*1116+285dup (TBCE)	ENSP00000495928.1:n.*1116+282_*1116+285dup
ENST00000645578.1:c.*1173+282_*1173+285dup	ENSP00000496495.1:n.*1173+282_*1173+285dup
ENST00000645582.1:c.*1229+282_*1229+285dup (TBCE)	ENSP00000494980.1:n.*1229+282_*1229+285dup
ENST00000645655.1:c.1399+282_1399+285dup	ENSP00000495202.1:n.1399+282_1399+285dup
ENST00000645836.1:c.*1173+282_*1173+285dup	ENSP00000493915.1:n.*1173+282_*1173+285dup
ENST00000645899.1:c.1399+282_1399+285dup (TBCE)	ENSP00000496773.1:n.1399+282_1399+285dup
ENST00000645964.1:c.*1265+282_*1265+285dup (TBCE)	ENSP00000494208.1:n.*1265+282_*1265+285dup
ENST00000646104.1:c.*1867+282_*1867+285dup (TBCE)	ENSP00000495475.1:n.*1867+282_*1867+285dup
ENST00000646186.1:c.*1071+282_*1071+285dup (TBCE)	ENSP00000493806.1:n.*1071+282_*1071+285dup
ENST00000646286.1:c.*1292+282_*1292+285dup (TBCE)	ENSP00000494291.1:n.*1292+282_*1292+285dup
ENST00000646463.1:c.*1164+282_*1164+285dup (TBCE)	ENSP00000494541.1:n.*1164+282_*1164+285dup
ENST00000646528.1:c.*2115+282_*2115+285dup	ENSP00000496553.1:n.*2115+282_*2115+285dup
ENST00000646536.1:c.*693+282_*693+285dup (TBCE)	ENSP00000494801.1:n.*693+282_*693+285dup
ENST00000646624.1:c.1399+282_1399+285dup	ENSP00000494575.1:n.1399+282_1399+285dup
ENST00000646661.1:n.179+282_179+285dup (TBCE)
ENST00000646821.1:c.*689+282_*689+285dup (TBCE)	ENSP00000495257.1:n.*689+282_*689+285dup
ENST00000646848.1:c.*614+282_*614+285dup (TBCE)	ENSP00000495831.1:n.*614+282_*614+285dup
ENST00000647151.1:c.123+232_123+235dup (TBCE)	ENSP00000495125.1:n.123+232_123+235dup
ENST00000647186.1:c.1399+282_1399+285dup	ENSP00000494775.1:n.1399+282_1399+285dup
ENST00000647233.1:n.2379+282_2379+285dup (TBCE)
ENST00000647322.1:c.990+282_990+285dup (TBCE)
ENST00000647418.1:c.*1173+282_*1173+285dup (TBCE)	ENSP00000493552.1:n.*1173+282_*1173+285dup
ENST00000647428.1:c.1060+282_1060+285dup	ENSP00000495630.1:n.1060+282_1060+285dup
ENST00000651186.1:c.1060+282_1060+285dup (TBCE)	ENSP00000498645.1:n.1060+282_1060+285dup
XM_006711749.2:c.1470-1691_1470-1688dup (B3GALNT2)	XP_006711812.1:n.1470-1691_1470-1688dup
XM_006711749.3:c.1470-1691_1470-1688dup (B3GALNT2)	XP_006711812.1:n.1470-1691_1470-1688dup