Canonical Allele Identifier: CA39604438
Community Standard Title: NM_003193.5(TBCE):c.*1753dup
Gene: B3GALNT2 HGNC NCBI
TBCE HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.235450515dup , CM000663.2:g.235450515dup GRCh38
NC_000001.10:g.235613830dup , CM000663.1:g.235613830dup GRCh37
NC_000001.9:g.233680453dup NCBI36
NG_009230.1:g.88103dup
NG_033219.2:g.58969dup

Transcript Alleles

HGVS Amino-acid Change
NM_003193.5:c.*1753dup (TBCE) MANE Select NP_003184.1:n.*1753dup
NM_152490.5:c.1369-173dup (B3GALNT2) MANE Select NP_689703.1:n.1369-173dup
ENST00000366600.8:c.1369-173dup (B3GALNT2) MANE Select ENSP00000355559.3:n.1369-173dup
ENST00000642610.2:c.*1753dup (TBCE) MANE Select ENSP00000494796.1:n.*1753dup
NM_001079515.3:c.*1753dup (TBCE) NP_001072983.1:n.*1753dup
NM_001287801.2:c.*1753dup (TBCE) NP_001274730.1:n.*1753dup
NM_001287802.2:c.*1753dup (TBCE) NP_001274731.1:n.*1753dup
NM_152490.4:c.1369-173dup (B3GALNT2) NP_689703.1:n.1369-173dup
ENST00000366600.7:c.1369-173dup (B3GALNT2) ENSP00000355559.3:n.1369-173dup
ENST00000675193.1:c.*309-173dup (B3GALNT2) ENSP00000502069.1:n.*309-173dup
ENST00000675555.1:c.1147-173dup (B3GALNT2) ENSP00000501896.1:n.1147-173dup
ENST00000676288.1:c.*844dup (B3GALNT2) ENSP00000502392.1:n.*844dup
XM_006711749.2:c.1369-173dup (B3GALNT2) XP_006711812.1:n.1369-173dup
XM_006711749.3:c.1369-173dup (B3GALNT2) XP_006711812.1:n.1369-173dup
XM_017000394.1:c.1492-173dup (B3GALNT2) XP_016855883.1:n.1492-173dup
XM_017000395.1:c.*45-173dup (B3GALNT2) XP_016855884.1:n.*45-173dup
XR_001736987.1:n.1473-173dup (B3GALNT2)
XR_001736989.1:n.1394-173dup (B3GALNT2)
XR_001736990.1:n.1356-173dup (B3GALNT2)