Canonical Allele Identifier: CA2651116396

Gene: B3GALNT2 TBCE

Linked Data

• gnomAD v4: 1-235450329-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450332_235450333del , CM000663.2:g.235450332_235450333del	GRCh38
NC_000001.10:g.235613647_235613648del , CM000663.1:g.235613647_235613648del	GRCh37
NC_000001.9:g.233680270_233680271del	NCBI36
NG_009230.1:g.87920_87921del
NG_033219.2:g.59151_59152del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1378_1379del (B3GALNT2) MANE Select	ENSP00000355559.3:p.Trp460AlafsTer3
ENST00000642610.2:c.*1570_*1571del (TBCE) MANE Select	ENSP00000494796.1:n.*1570_*1571del
ENST00000675193.1:c.*318_*319del (B3GALNT2)	ENSP00000502069.1:n.*318_*319del
ENST00000675555.1:c.1156_1157del (B3GALNT2)	ENSP00000501896.1:p.Trp386AlafsTer3
ENST00000676288.1:c.*1026_*1027del (B3GALNT2)	ENSP00000502392.1:n.*1026_*1027del
ENST00000366600.7:c.1378_1379del (B3GALNT2)	ENSP00000355559.3:p.Trp460AlafsTer3
NM_152490.4:c.1378_1379del (B3GALNT2)	NP_689703.1:p.Trp460AlafsTer3
XM_006711749.2:c.1378_1379del (B3GALNT2)	XP_006711812.1:p.Trp460AlafsTer3
XM_006711749.3:c.1378_1379del (B3GALNT2)	XP_006711812.1:p.Trp460AlafsTer3
XM_017000394.1:c.1501_1502del (B3GALNT2)	XP_016855883.1:p.Trp501AlafsTer3
XM_017000395.1:c.*54_*55del (B3GALNT2)	XP_016855884.1:n.*54_*55del
XR_001736987.1:n.1482_1483del (B3GALNT2)
XR_001736989.1:n.1403_1404del (B3GALNT2)
XR_001736990.1:n.1365_1366del (B3GALNT2)
NM_003193.5:c.*1570_*1571del (TBCE) MANE Select	NP_003184.1:n.*1570_*1571del
NM_152490.5:c.1378_1379del (B3GALNT2) MANE Select	NP_689703.1:p.Trp460AlafsTer3
NM_001079515.3:c.*1570_*1571del (TBCE)	NP_001072983.1:n.*1570_*1571del
NM_001287801.2:c.*1570_*1571del (TBCE)	NP_001274730.1:n.*1570_*1571del
NM_001287802.2:c.*1570_*1571del (TBCE)	NP_001274731.1:n.*1570_*1571del