Canonical Allele Identifier: CA2574159491

Gene: B3GALNT2 TBCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450344_235450346dup , CM000663.2:g.235450344_235450346dup	GRCh38
NC_000001.10:g.235613659_235613661dup , CM000663.1:g.235613659_235613661dup	GRCh37
NC_000001.9:g.233680282_233680284dup	NCBI36
NG_009230.1:g.87932_87934dup
NG_033219.2:g.59138_59140dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1369-4_1369-2dup (B3GALNT2) MANE Select	ENSP00000355559.3:n.1369-4_1369-2dup
ENST00000642610.2:c.*1582_*1584dup (TBCE) MANE Select	ENSP00000494796.1:n.*1582_*1584dup
ENST00000675193.1:c.*309-4_*309-2dup (B3GALNT2)	ENSP00000502069.1:n.*309-4_*309-2dup
ENST00000675555.1:c.1147-4_1147-2dup (B3GALNT2)	ENSP00000501896.1:n.1147-4_1147-2dup
ENST00000676288.1:c.*1013_*1015dup (B3GALNT2)	ENSP00000502392.1:n.*1013_*1015dup
ENST00000366600.7:c.1369-4_1369-2dup (B3GALNT2)	ENSP00000355559.3:n.1369-4_1369-2dup
NM_152490.4:c.1369-4_1369-2dup (B3GALNT2)	NP_689703.1:n.1369-4_1369-2dup
XM_006711749.2:c.1369-4_1369-2dup (B3GALNT2)	XP_006711812.1:n.1369-4_1369-2dup
XM_006711749.3:c.1369-4_1369-2dup (B3GALNT2)	XP_006711812.1:n.1369-4_1369-2dup
XM_017000394.1:c.1492-4_1492-2dup (B3GALNT2)	XP_016855883.1:n.1492-4_1492-2dup
XM_017000395.1:c.*45-4_*45-2dup (B3GALNT2)	XP_016855884.1:n.*45-4_*45-2dup
XR_001736987.1:n.1473-4_1473-2dup (B3GALNT2)
XR_001736989.1:n.1394-4_1394-2dup (B3GALNT2)
XR_001736990.1:n.1356-4_1356-2dup (B3GALNT2)
NM_003193.5:c.*1582_*1584dup (TBCE) MANE Select	NP_003184.1:n.*1582_*1584dup
NM_152490.5:c.1369-4_1369-2dup (B3GALNT2) MANE Select	NP_689703.1:n.1369-4_1369-2dup
NM_001079515.3:c.*1582_*1584dup (TBCE)	NP_001072983.1:n.*1582_*1584dup
NM_001287801.2:c.*1582_*1584dup (TBCE)	NP_001274730.1:n.*1582_*1584dup
NM_001287802.2:c.*1582_*1584dup (TBCE)	NP_001274731.1:n.*1582_*1584dup