Canonical Allele Identifier: CA344951998

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235448414C>G , CM000663.2:g.235448414C>G	GRCh38
NC_000001.10:g.235611729C>G , CM000663.1:g.235611729C>G	GRCh37
NC_000001.9:g.233678352C>G	NCBI36
NG_009230.1:g.86002C>G
NG_033219.2:g.61068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.*1792G>C (B3GALNT2) MANE Select	ENSP00000355559.3:n.*1792G>C
ENST00000366601.8:c.1276C>G (TBCE)	ENSP00000355560.4:p.Leu426Val
ENST00000406207.5:c.1465C>G (TBCE)	ENSP00000384571.1:p.Leu489Val
ENST00000465463.2:n.1187C>G (TBCE)
ENST00000472011.6:n.2189C>G (TBCE)
ENST00000543662.4:c.1618C>G (TBCE)	ENSP00000439170.1:p.Leu540Val
ENST00000642339.1:c.*1162C>G (TBCE)	ENSP00000495425.1:n.*1162C>G
ENST00000642431.1:c.2042C>G
ENST00000642463.1:c.*1363C>G (TBCE)	ENSP00000495007.1:n.*1363C>G
ENST00000642503.1:c.*1239C>G	ENSP00000494334.1:n.*1239C>G
ENST00000642610.2:c.1465C>G (TBCE) MANE Select	ENSP00000494796.1:p.Leu489Val
ENST00000642764.1:n.2296C>G (TBCE)
ENST00000643125.1:c.*480C>G (TBCE)	ENSP00000494102.1:n.*480C>G
ENST00000643142.1:c.*956C>G (TBCE)	ENSP00000494755.1:n.*956C>G
ENST00000643410.1:c.*755C>G	ENSP00000495030.1:n.*755C>G
ENST00000643487.1:n.2152C>G (TBCE)
ENST00000643524.1:c.*1050C>G (TBCE)	ENSP00000494026.1:n.*1050C>G
ENST00000643615.1:c.*1311C>G (TBCE)	ENSP00000496103.1:n.*1311C>G
ENST00000643993.1:n.1601C>G (TBCE)
ENST00000643994.1:c.*1465C>G (TBCE)	ENSP00000496322.1:n.*1465C>G
ENST00000644037.1:c.*1675C>G (TBCE)	ENSP00000496408.1:n.*1675C>G
ENST00000644055.1:c.*2090C>G	ENSP00000496307.1:n.*2090C>G
ENST00000644126.1:n.3137C>G (TBCE)
ENST00000644217.1:c.1531C>G (TBCE)	ENSP00000494646.1:p.Leu511Val
ENST00000644578.1:c.1345C>G (TBCE)	ENSP00000495953.1:p.Leu449Val
ENST00000644604.1:c.1465C>G	ENSP00000495961.1:p.Leu489Val
ENST00000644680.1:c.*1986C>G	ENSP00000496173.1:n.*1986C>G
ENST00000644838.1:c.*848C>G (TBCE)	ENSP00000495910.1:n.*848C>G
ENST00000644910.1:c.2072C>G (TBCE)
ENST00000645205.1:c.1465C>G	ENSP00000495823.1:p.Leu489Val
ENST00000645351.1:c.1465C>G	ENSP00000494319.1:p.Leu489Val
ENST00000645551.1:c.*1182C>G (TBCE)	ENSP00000495928.1:n.*1182C>G
ENST00000645578.1:c.*1239C>G	ENSP00000496495.1:n.*1239C>G
ENST00000645582.1:c.*1295C>G (TBCE)	ENSP00000494980.1:n.*1295C>G
ENST00000645655.1:c.1465C>G	ENSP00000495202.1:p.Leu489Val
ENST00000645836.1:c.*1239C>G	ENSP00000493915.1:n.*1239C>G
ENST00000645899.1:c.1465C>G (TBCE)	ENSP00000496773.1:p.Leu489Val
ENST00000645964.1:c.*1331C>G (TBCE)	ENSP00000494208.1:n.*1331C>G
ENST00000646104.1:c.*1933C>G (TBCE)	ENSP00000495475.1:n.*1933C>G
ENST00000646186.1:c.*1137C>G (TBCE)	ENSP00000493806.1:n.*1137C>G
ENST00000646286.1:c.*1358C>G (TBCE)	ENSP00000494291.1:n.*1358C>G
ENST00000646463.1:c.*1230C>G (TBCE)	ENSP00000494541.1:n.*1230C>G
ENST00000646528.1:c.*2181C>G	ENSP00000496553.1:n.*2181C>G
ENST00000646536.1:c.*759C>G (TBCE)	ENSP00000494801.1:n.*759C>G
ENST00000646624.1:c.1465C>G	ENSP00000494575.1:p.Leu489Val
ENST00000646661.1:n.245C>G (TBCE)
ENST00000646821.1:c.*755C>G (TBCE)	ENSP00000495257.1:n.*755C>G
ENST00000646848.1:c.*680C>G (TBCE)	ENSP00000495831.1:n.*680C>G
ENST00000647151.1:c.189C>G (TBCE)	ENSP00000495125.1:n.189C>G
ENST00000647186.1:c.1465C>G	ENSP00000494775.1:p.Leu489Val
ENST00000647233.1:n.2445C>G (TBCE)
ENST00000647322.1:c.1056C>G (TBCE)
ENST00000647418.1:c.*1239C>G (TBCE)	ENSP00000493552.1:n.*1239C>G
ENST00000647428.1:c.1126C>G	ENSP00000495630.1:p.Leu376Val
ENST00000651186.1:c.1126C>G (TBCE)	ENSP00000498645.1:p.Leu376Val
ENST00000675193.1:c.*2235G>C (B3GALNT2)	ENSP00000502069.1:n.*2235G>C
ENST00000366601.7:c.1465C>G	ENSP00000355560.3:p.Leu489Val
ENST00000406207.4:c.1465C>G	ENSP00000384571.1:p.Leu489Val
ENST00000465463.1:n.305C>G
ENST00000472011.5:n.1517C>G
ENST00000543662.3:c.1618C>G	ENSP00000439170.1:p.Leu540Val
NM_001079515.2:c.1465C>G (TBCE)	NP_001072983.1:p.Leu489Val
NM_001287801.1:c.1618C>G (TBCE)	NP_001274730.1:p.Leu540Val
NM_001287802.1:c.1126C>G (TBCE)	NP_001274731.1:p.Leu376Val
NM_003193.4:c.1465C>G (TBCE)	NP_003184.1:p.Leu489Val
NM_152490.4:c.*1792G>C (B3GALNT2)	NP_689703.1:n.*1792G>C
XM_006711749.2:c.1469+1826G>C (B3GALNT2)	XP_006711812.1:n.1469+1826G>C
XM_006711749.3:c.1469+1826G>C (B3GALNT2)	XP_006711812.1:n.1469+1826G>C
XM_017000394.1:c.*1792G>C (B3GALNT2)	XP_016855883.1:n.*1792G>C
XM_017000395.1:c.*1971G>C (B3GALNT2)	XP_016855884.1:n.*1971G>C
XR_001736987.1:n.3399G>C (B3GALNT2)
XR_001736989.1:n.3320G>C (B3GALNT2)
XR_001736990.1:n.3282G>C (B3GALNT2)
NM_003193.5:c.1465C>G (TBCE) MANE Select	NP_003184.1:p.Leu489Val
NM_152490.5:c.*1792G>C (B3GALNT2) MANE Select	NP_689703.1:n.*1792G>C
NM_001079515.3:c.1465C>G (TBCE)	NP_001072983.1:p.Leu489Val
NM_001287801.2:c.1618C>G (TBCE)	NP_001274730.1:p.Leu540Val
NM_001287802.2:c.1126C>G (TBCE)	NP_001274731.1:p.Leu376Val