Canonical Allele Identifier: CA2486505105

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450334G= , CM000663.2:g.235450334G=	GRCh38
NC_000001.10:g.235613649G= , CM000663.1:g.235613649G=	GRCh37
NC_000001.9:g.233680272G=	NCBI36
NG_009230.1:g.87922G=
NG_033219.2:g.59148C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1375C= (B3GALNT2) MANE Select	ENSP00000355559.3:p.Leu459=
ENST00000642610.2:c.*1572G= (TBCE) MANE Select	ENSP00000494796.1:n.*1572G=
ENST00000675193.1:c.*315C= (B3GALNT2)	ENSP00000502069.1:n.*315C=
ENST00000675555.1:c.1153C= (B3GALNT2)	ENSP00000501896.1:p.Leu385=
ENST00000676288.1:c.*1023C= (B3GALNT2)	ENSP00000502392.1:n.*1023C=
ENST00000366600.7:c.1375C= (B3GALNT2)	ENSP00000355559.3:p.Leu459=
NM_152490.4:c.1375C= (B3GALNT2)	NP_689703.1:p.Leu459=
XM_006711749.2:c.1375C= (B3GALNT2)	XP_006711812.1:p.Leu459=
XM_006711749.3:c.1375C= (B3GALNT2)	XP_006711812.1:p.Leu459=
XM_017000394.1:c.1498C= (B3GALNT2)	XP_016855883.1:p.Leu500=
XM_017000395.1:c.*51C= (B3GALNT2)	XP_016855884.1:n.*51C=
XR_001736987.1:n.1479C= (B3GALNT2)
XR_001736989.1:n.1400C= (B3GALNT2)
XR_001736990.1:n.1362C= (B3GALNT2)
NM_003193.5:c.*1572G= (TBCE) MANE Select	NP_003184.1:n.*1572G=
NM_152490.5:c.1375C= (B3GALNT2) MANE Select	NP_689703.1:p.Leu459=
NM_001079515.3:c.*1572G= (TBCE)	NP_001072983.1:n.*1572G=
NM_001287801.2:c.*1572G= (TBCE)	NP_001274730.1:n.*1572G=
NM_001287802.2:c.*1572G= (TBCE)	NP_001274731.1:n.*1572G=