Canonical Allele Identifier: CA2651116395

Gene: B3GALNT2 TBCE

Linked Data

• gnomAD v4: 1-235450322-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.235450323dup , CM000663.2:g.235450323dup	GRCh38
NC_000001.10:g.235613638dup , CM000663.1:g.235613638dup	GRCh37
NC_000001.9:g.233680261dup	NCBI36
NG_009230.1:g.87911dup
NG_033219.2:g.59159dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366600.8:c.1386dup (B3GALNT2) MANE Select	ENSP00000355559.3:p.Glu463Ter
ENST00000642610.2:c.*1561dup (TBCE) MANE Select	ENSP00000494796.1:n.*1561dup
ENST00000675193.1:c.*326dup (B3GALNT2)	ENSP00000502069.1:n.*326dup
ENST00000675555.1:c.1164dup (B3GALNT2)	ENSP00000501896.1:p.Glu389Ter
ENST00000676288.1:c.*1034dup (B3GALNT2)	ENSP00000502392.1:n.*1034dup
ENST00000366600.7:c.1386dup (B3GALNT2)	ENSP00000355559.3:p.Glu463Ter
NM_152490.4:c.1386dup (B3GALNT2)	NP_689703.1:p.Glu463Ter
XM_006711749.2:c.1386dup (B3GALNT2)	XP_006711812.1:p.Glu463Ter
XM_006711749.3:c.1386dup (B3GALNT2)	XP_006711812.1:p.Glu463Ter
XM_017000394.1:c.1509dup (B3GALNT2)	XP_016855883.1:p.Glu504Ter
XM_017000395.1:c.*62dup (B3GALNT2)	XP_016855884.1:n.*62dup
XR_001736987.1:n.1490dup (B3GALNT2)
XR_001736989.1:n.1411dup (B3GALNT2)
XR_001736990.1:n.1373dup (B3GALNT2)
NM_003193.5:c.*1561dup (TBCE) MANE Select	NP_003184.1:n.*1561dup
NM_152490.5:c.1386dup (B3GALNT2) MANE Select	NP_689703.1:p.Glu463Ter
NM_001079515.3:c.*1561dup (TBCE)	NP_001072983.1:n.*1561dup
NM_001287801.2:c.*1561dup (TBCE)	NP_001274730.1:n.*1561dup
NM_001287802.2:c.*1561dup (TBCE)	NP_001274731.1:n.*1561dup