Canonical Allele Identifier: CA2486505102

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450327A= , CM000663.2:g.235450327A=	GRCh38
NC_000001.10:g.235613642A= , CM000663.1:g.235613642A=	GRCh37
NC_000001.9:g.233680265A=	NCBI36
NG_009230.1:g.87915A=
NG_033219.2:g.59155T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1382T= (B3GALNT2) MANE Select	ENSP00000355559.3:p.Leu461=
ENST00000642610.2:c.*1565A= (TBCE) MANE Select	ENSP00000494796.1:n.*1565A=
ENST00000675193.1:c.*322T= (B3GALNT2)	ENSP00000502069.1:n.*322T=
ENST00000675555.1:c.1160T= (B3GALNT2)	ENSP00000501896.1:p.Leu387=
ENST00000676288.1:c.*1030T= (B3GALNT2)	ENSP00000502392.1:n.*1030T=
ENST00000366600.7:c.1382T= (B3GALNT2)	ENSP00000355559.3:p.Leu461=
NM_152490.4:c.1382T= (B3GALNT2)	NP_689703.1:p.Leu461=
XM_006711749.2:c.1382T= (B3GALNT2)	XP_006711812.1:p.Leu461=
XM_006711749.3:c.1382T= (B3GALNT2)	XP_006711812.1:p.Leu461=
XM_017000394.1:c.1505T= (B3GALNT2)	XP_016855883.1:p.Leu502=
XM_017000395.1:c.*58T= (B3GALNT2)	XP_016855884.1:n.*58T=
XR_001736987.1:n.1486T= (B3GALNT2)
XR_001736989.1:n.1407T= (B3GALNT2)
XR_001736990.1:n.1369T= (B3GALNT2)
NM_003193.5:c.*1565A= (TBCE) MANE Select	NP_003184.1:n.*1565A=
NM_152490.5:c.1382T= (B3GALNT2) MANE Select	NP_689703.1:p.Leu461=
NM_001079515.3:c.*1565A= (TBCE)	NP_001072983.1:n.*1565A=
NM_001287801.2:c.*1565A= (TBCE)	NP_001274730.1:n.*1565A=
NM_001287802.2:c.*1565A= (TBCE)	NP_001274731.1:n.*1565A=