Canonical Allele Identifier: CA2486505125
Gene: B3GALNT2 HGNC NCBI
TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235450383G= , CM000663.2:g.235450383G= GRCh38
NC_000001.10:g.235613698G= , CM000663.1:g.235613698G= GRCh37
NC_000001.9:g.233680321G= NCBI36
NG_009230.1:g.87971G=
NG_033219.2:g.59099C=

Transcript Alleles

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