Canonical Allele Identifier: CA2486505123

Gene: B3GALNT2 TBCE

Linked Data

• dbSNP Id: rs1682825113
• gnomAD v4: 1-235450381-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450383_235450384del , CM000663.2:g.235450383_235450384del	GRCh38
NC_000001.10:g.235613698_235613699del , CM000663.1:g.235613698_235613699del	GRCh37
NC_000001.9:g.233680321_233680322del	NCBI36
NG_009230.1:g.87971_87972del
NG_033219.2:g.59099_59100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1369-43_1369-42del (B3GALNT2) MANE Select	ENSP00000355559.3:n.1369-43_1369-42del
ENST00000642610.2:c.*1621_*1622del (TBCE) MANE Select	ENSP00000494796.1:n.*1621_*1622del
ENST00000675193.1:c.*309-43_*309-42del (B3GALNT2)	ENSP00000502069.1:n.*309-43_*309-42del
ENST00000675555.1:c.1147-43_1147-42del (B3GALNT2)	ENSP00000501896.1:n.1147-43_1147-42del
ENST00000676288.1:c.*974_*975del (B3GALNT2)	ENSP00000502392.1:n.*974_*975del
ENST00000366600.7:c.1369-43_1369-42del (B3GALNT2)	ENSP00000355559.3:n.1369-43_1369-42del
NM_152490.4:c.1369-43_1369-42del (B3GALNT2)	NP_689703.1:n.1369-43_1369-42del
XM_006711749.2:c.1369-43_1369-42del (B3GALNT2)	XP_006711812.1:n.1369-43_1369-42del
XM_006711749.3:c.1369-43_1369-42del (B3GALNT2)	XP_006711812.1:n.1369-43_1369-42del
XM_017000394.1:c.1492-43_1492-42del (B3GALNT2)	XP_016855883.1:n.1492-43_1492-42del
XM_017000395.1:c.*45-43_*45-42del (B3GALNT2)	XP_016855884.1:n.*45-43_*45-42del
XR_001736987.1:n.1473-43_1473-42del (B3GALNT2)
XR_001736989.1:n.1394-43_1394-42del (B3GALNT2)
XR_001736990.1:n.1356-43_1356-42del (B3GALNT2)
NM_003193.5:c.*1621_*1622del (TBCE) MANE Select	NP_003184.1:n.*1621_*1622del
NM_152490.5:c.1369-43_1369-42del (B3GALNT2) MANE Select	NP_689703.1:n.1369-43_1369-42del
NM_001079515.3:c.*1621_*1622del (TBCE)	NP_001072983.1:n.*1621_*1622del
NM_001287801.2:c.*1621_*1622del (TBCE)	NP_001274730.1:n.*1621_*1622del
NM_001287802.2:c.*1621_*1622del (TBCE)	NP_001274731.1:n.*1621_*1622del